Canonical Allele Identifier: CA433838391

Gene: AMT

Linked Data

• MyVariant Identifiers: chr3:g.49455336C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49417903C>G , CM000665.2:g.49417903C>G	GRCh38
NC_000003.11:g.49455336C>G , CM000665.1:g.49455336C>G	GRCh37
NC_000003.10:g.49430340C>G	NCBI36
NG_015986.1:g.9776G>C , LRG_537:g.9776G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.948G>C MANE Select	ENSP00000273588.3:p.Val316=
ENST00000395338.7:c.948G>C	ENSP00000378747.2:p.Val316=
ENST00000399379.7:c.680G>C	ENSP00000399943.2:n.680G>C
ENST00000427987.6:c.804G>C	ENSP00000403821.2:p.Val268=
ENST00000465925.6:n.2950G>C
ENST00000473163.2:n.3564G>C
ENST00000476127.6:n.1177G>C
ENST00000476226.6:n.1369G>C
ENST00000478594.6:n.1375G>C
ENST00000493046.6:n.2750-185G>C
ENST00000538581.6:c.804G>C	ENSP00000443200.2:p.Val268=
ENST00000635772.1:n.1786G>C
ENST00000635798.1:n.392-185G>C
ENST00000635808.1:c.867G>C	ENSP00000489620.1:p.Val289=
ENST00000635889.1:n.1441G>C
ENST00000635907.1:n.592-185G>C
ENST00000635936.1:n.1216G>C
ENST00000636023.1:c.*121G>C	ENSP00000489969.1:n.*121G>C
ENST00000636070.1:c.*728G>C	ENSP00000490160.1:n.*728G>C
ENST00000636148.1:n.3001G>C
ENST00000636166.1:c.1185G>C	ENSP00000490106.1:p.Val395=
ENST00000636188.1:c.127G>C
ENST00000636199.1:c.510G>C	ENSP00000490871.1:p.Val170=
ENST00000636204.1:n.2230G>C
ENST00000636461.1:c.4482G>C
ENST00000636522.1:c.780G>C	ENSP00000489758.1:p.Val260=
ENST00000636587.1:n.1034G>C
ENST00000636594.1:n.470G>C
ENST00000636597.1:c.551-185G>C	ENSP00000490251.1:n.551-185G>C
ENST00000636725.1:n.1664G>C
ENST00000636803.1:n.1290G>C
ENST00000636865.1:c.792G>C	ENSP00000490601.1:p.Val264=
ENST00000636871.1:n.1313G>C
ENST00000636978.1:n.1060G>C
ENST00000636991.1:n.1393G>C
ENST00000637059.1:c.400G>C	ENSP00000490153.1:n.400G>C
ENST00000637088.1:n.5760G>C
ENST00000637114.1:n.1048G>C
ENST00000637268.1:n.1849G>C
ENST00000637291.1:n.1682G>C
ENST00000637442.1:n.3169G>C
ENST00000637455.1:c.759G>C	ENSP00000489628.1:p.Val253=
ENST00000637457.1:n.1809G>C
ENST00000637527.1:n.240G>C
ENST00000637682.1:c.878-185G>C	ENSP00000489856.1:n.878-185G>C
ENST00000637684.1:n.1158G>C
ENST00000637821.1:c.*1228+30G>C	ENSP00000490482.1:n.*1228+30G>C
ENST00000637914.1:n.2842G>C
ENST00000637982.1:n.1362G>C
ENST00000637994.1:n.1488G>C
ENST00000638014.1:c.3729G>C
ENST00000638063.1:c.867G>C	ENSP00000489760.1:p.Val289=
ENST00000638079.1:c.*1460G>C	ENSP00000490120.1:n.*1460G>C
ENST00000638092.1:n.1468G>C
ENST00000638115.1:c.*2709G>C	ENSP00000490296.1:n.*2709G>C
ENST00000273588.7:c.948G>C	ENSP00000273588.3:p.Val316=
ENST00000395338.6:c.948G>C	ENSP00000378747.2:p.Val316=
ENST00000399379.6:c.*728G>C	ENSP00000399943.1:n.*728G>C
ENST00000427987.5:c.940G>C
ENST00000430521.1:c.780G>C	ENSP00000388068.1:p.Val260=
ENST00000458307.6:c.816G>C	ENSP00000415619.2:p.Val272=
ENST00000465925.5:n.2246G>C
ENST00000473163.1:n.317G>C
ENST00000476127.5:n.707G>C
ENST00000476226.5:n.1013G>C
ENST00000495436.5:n.655-185G>C
ENST00000538581.5:c.780G>C	ENSP00000443200.1:p.Val260=
NM_000481.3:c.948G>C , LRG_537t1:c.948G>C	NP_000472.2:p.Val316=
NM_001164710.1:c.816G>C	NP_001158182.1:p.Val272=
NM_001164711.1:c.780G>C	NP_001158183.1:p.Val260=
NM_001164712.1:c.948G>C	NP_001158184.1:p.Val316=
NR_028435.1:n.1162G>C
NM_000481.4:c.948G>C MANE Select	NP_000472.2:p.Val316=
NM_001164710.2:c.816G>C	NP_001158182.1:p.Val272=
NM_001164711.2:c.780G>C	NP_001158183.1:p.Val260=
NM_001164712.2:c.948G>C	NP_001158184.1:p.Val316=
NR_028435.2:n.957G>C