Canonical Allele Identifier: CA907827493

Gene: AMT

Linked Data

• dbSNP Id: rs1185248735
• gnomAD v3: 3-49417814-C-G
• gnomAD v4: 3-49417814-C-G
• MyVariant Identifiers: chr3:g.49455247C>G (hg19) ; chr3:g.49417814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417814C>G , CM000665.2:g.49417814C>G	GRCh38
NC_000003.11:g.49455247C>G , CM000665.1:g.49455247C>G	GRCh37
NC_000003.10:g.49430251C>G	NCBI36
NG_015986.1:g.9865G>C , LRG_537:g.9865G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000273588.9:c.1033+4G>C MANE Select	ENSP00000273588.3:n.1033+4G>C
ENST00000395338.7:c.1033+4G>C	ENSP00000378747.2:n.1033+4G>C
ENST00000399379.7:c.765+4G>C	ENSP00000399943.2:n.765+4G>C
ENST00000427987.6:c.889+4G>C	ENSP00000403821.2:n.889+4G>C
ENST00000465925.6:n.3035+4G>C
ENST00000473163.2:n.3649+4G>C
ENST00000476127.6:n.1262+4G>C
ENST00000476226.6:n.1454+4G>C
ENST00000478594.6:n.1460+4G>C
ENST00000493046.6:n.2750-96G>C
ENST00000538581.6:c.889+4G>C	ENSP00000443200.2:n.889+4G>C
ENST00000635772.1:n.1871+4G>C
ENST00000635798.1:n.392-96G>C
ENST00000635808.1:c.952+4G>C	ENSP00000489620.1:n.952+4G>C
ENST00000635889.1:n.1526+4G>C
ENST00000635907.1:n.592-96G>C
ENST00000635936.1:n.1301+4G>C
ENST00000636023.1:c.*206+4G>C	ENSP00000489969.1:n.*206+4G>C
ENST00000636070.1:c.*813+4G>C	ENSP00000490160.1:n.*813+4G>C
ENST00000636148.1:n.3086+4G>C
ENST00000636166.1:c.1270+4G>C	ENSP00000490106.1:n.1270+4G>C
ENST00000636188.1:c.212+4G>C
ENST00000636199.1:c.595+4G>C	ENSP00000490871.1:n.595+4G>C
ENST00000636204.1:n.2315+4G>C
ENST00000636461.1:c.4567+4G>C
ENST00000636522.1:c.865+4G>C	ENSP00000489758.1:n.865+4G>C
ENST00000636587.1:n.1119+4G>C
ENST00000636594.1:n.559G>C
ENST00000636597.1:c.551-96G>C	ENSP00000490251.1:n.551-96G>C
ENST00000636725.1:n.1749+4G>C
ENST00000636803.1:n.1375+4G>C
ENST00000636865.1:c.877+4G>C	ENSP00000490601.1:n.877+4G>C
ENST00000636871.1:n.1398+4G>C
ENST00000636978.1:n.1145+4G>C
ENST00000636991.1:n.1478+4G>C
ENST00000637059.1:c.485+4G>C	ENSP00000490153.1:n.485+4G>C
ENST00000637088.1:n.5845+4G>C
ENST00000637114.1:n.1133+4G>C
ENST00000637268.1:n.1934+4G>C
ENST00000637291.1:n.1767+4G>C
ENST00000637442.1:n.3254+4G>C
ENST00000637455.1:c.844+4G>C	ENSP00000489628.1:n.844+4G>C
ENST00000637457.1:n.1894+4G>C
ENST00000637527.1:n.325+4G>C
ENST00000637682.1:c.878-96G>C	ENSP00000489856.1:n.878-96G>C
ENST00000637684.1:n.1243+4G>C
ENST00000637821.1:c.*1229-96G>C	ENSP00000490482.1:n.*1229-96G>C
ENST00000637914.1:n.2927+4G>C
ENST00000637982.1:n.1447+4G>C
ENST00000637994.1:n.1573+4G>C
ENST00000638014.1:c.3814+4G>C
ENST00000638063.1:c.952+4G>C	ENSP00000489760.1:n.952+4G>C
ENST00000638079.1:c.*1545+4G>C	ENSP00000490120.1:n.*1545+4G>C
ENST00000638092.1:n.1553+4G>C
ENST00000638115.1:c.*2794+4G>C	ENSP00000490296.1:n.*2794+4G>C
ENST00000273588.7:c.1033+4G>C	ENSP00000273588.3:n.1033+4G>C
ENST00000395338.6:c.1033+4G>C	ENSP00000378747.2:n.1033+4G>C
ENST00000399379.6:c.*813+4G>C	ENSP00000399943.1:n.*813+4G>C
ENST00000427987.5:c.1025+4G>C
ENST00000458307.6:c.901+4G>C	ENSP00000415619.2:n.901+4G>C
ENST00000465925.5:n.2331+4G>C
ENST00000473163.1:n.402+4G>C
ENST00000476127.5:n.792+4G>C
ENST00000476226.5:n.1098+4G>C
ENST00000495436.5:n.655-96G>C
ENST00000538581.5:c.865+4G>C	ENSP00000443200.1:n.865+4G>C
NM_000481.3:c.1033+4G>C , LRG_537t1:c.1033+4G>C	NP_000472.2:n.1033+4G>C
NM_001164710.1:c.901+4G>C	NP_001158182.1:n.901+4G>C
NM_001164711.1:c.865+4G>C	NP_001158183.1:n.865+4G>C
NM_001164712.1:c.1033+4G>C	NP_001158184.1:n.1033+4G>C
NR_028435.1:n.1247+4G>C
NM_000481.4:c.1033+4G>C MANE Select	NP_000472.2:n.1033+4G>C
NM_001164710.2:c.901+4G>C	NP_001158182.1:n.901+4G>C
NM_001164711.2:c.865+4G>C	NP_001158183.1:n.865+4G>C
NM_001164712.2:c.1033+4G>C	NP_001158184.1:n.1033+4G>C
NR_028435.2:n.1042+4G>C