Canonical Allele Identifier: CA352791182

Gene: AMT

Linked Data

• dbSNP Id: rs201643709
• gnomAD v2: 3-49459620-C-G
• gnomAD v4: 3-49422187-C-G
• MyVariant Identifiers: chr3:g.49459620C>G (hg19) ; chr3:g.49422187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49422187C>G , CM000665.2:g.49422187C>G	GRCh38
NC_000003.11:g.49459620C>G , CM000665.1:g.49459620C>G	GRCh37
NC_000003.10:g.49434624C>G	NCBI36
NG_015986.1:g.5492G>C , LRG_537:g.5492G>C
NG_033046.1:g.12138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273588.9:c.175G>C MANE Select	ENSP00000273588.3:p.Val59Leu
ENST00000395338.7:c.175G>C	ENSP00000378747.2:p.Val59Leu
ENST00000399379.7:c.60+174G>C	ENSP00000399943.2:n.60+174G>C
ENST00000427987.6:c.31G>C	ENSP00000403821.2:p.Val11Leu
ENST00000430521.2:c.91-138G>C	ENSP00000388068.2:n.91-138G>C
ENST00000462048.2:c.-101-138G>C	ENSP00000490465.1:n.-101-138G>C
ENST00000465925.6:n.194G>C
ENST00000473163.2:n.277G>C
ENST00000476127.6:n.52G>C
ENST00000476226.6:n.174G>C
ENST00000478594.6:n.180G>C
ENST00000480957.6:n.193G>C
ENST00000485108.6:n.305G>C
ENST00000487589.6:n.88G>C
ENST00000491800.3:n.286G>C
ENST00000493046.6:n.272G>C
ENST00000538581.6:c.31G>C	ENSP00000443200.2:p.Val11Leu
ENST00000635772.1:n.179G>C
ENST00000635808.1:c.175G>C	ENSP00000489620.1:p.Val59Leu
ENST00000635889.1:n.184G>C
ENST00000635936.1:n.167G>C
ENST00000636023.1:c.175G>C	ENSP00000489969.1:p.Val59Leu
ENST00000636070.1:c.91-138G>C	ENSP00000490160.1:n.91-138G>C
ENST00000636148.1:n.245G>C
ENST00000636166.1:c.496-615G>C	ENSP00000490106.1:n.496-615G>C
ENST00000636199.1:c.175G>C	ENSP00000490871.1:p.Val59Leu
ENST00000636204.1:n.1457G>C
ENST00000636461.1:c.3287G>C
ENST00000636522.1:c.90+174G>C	ENSP00000489758.1:n.90+174G>C
ENST00000636587.1:n.407G>C
ENST00000636597.1:c.175G>C	ENSP00000490251.1:p.Val59Leu
ENST00000636725.1:n.165G>C
ENST00000636803.1:n.165G>C
ENST00000636865.1:c.31G>C	ENSP00000490601.1:p.Val11Leu
ENST00000636871.1:n.118G>C
ENST00000636978.1:n.179G>C
ENST00000636991.1:n.198G>C
ENST00000637088.1:n.3730G>C
ENST00000637114.1:n.167G>C
ENST00000637268.1:n.180G>C
ENST00000637291.1:n.183G>C
ENST00000637442.1:n.1670G>C
ENST00000637457.1:n.202G>C
ENST00000637682.1:c.175G>C	ENSP00000489856.1:p.Val59Leu
ENST00000637684.1:n.277G>C
ENST00000637821.1:c.91-138G>C	ENSP00000490482.1:n.91-138G>C
ENST00000637914.1:n.194G>C
ENST00000637982.1:n.167G>C
ENST00000637994.1:n.185G>C
ENST00000638014.1:c.2956G>C
ENST00000638063.1:c.175G>C	ENSP00000489760.1:p.Val59Leu
ENST00000638079.1:c.*691G>C	ENSP00000490120.1:n.*691G>C
ENST00000638092.1:n.165G>C
ENST00000638115.1:c.*1936G>C	ENSP00000490296.1:n.*1936G>C
ENST00000273588.7:c.175G>C	ENSP00000273588.3:p.Val59Leu
ENST00000395338.6:c.175G>C	ENSP00000378747.2:p.Val59Leu
ENST00000399379.6:c.91-138G>C	ENSP00000399943.1:n.91-138G>C
ENST00000427987.5:c.167G>C
ENST00000430521.1:c.90+174G>C	ENSP00000388068.1:n.90+174G>C
ENST00000458307.6:c.175G>C	ENSP00000415619.2:p.Val59Leu
ENST00000462048.1:n.248-138G>C
ENST00000476226.5:n.240G>C
ENST00000478594.5:n.169G>C
ENST00000480957.5:n.183G>C
ENST00000485108.5:n.169G>C
ENST00000487589.5:n.277G>C
ENST00000493046.5:n.92-138G>C
ENST00000495436.5:n.265G>C
ENST00000498571.1:n.173G>C
ENST00000538581.5:c.90+174G>C	ENSP00000443200.1:n.90+174G>C
NM_000481.3:c.175G>C , LRG_537t1:c.175G>C	NP_000472.2:p.Val59Leu
NM_001164710.1:c.175G>C	NP_001158182.1:p.Val59Leu
NM_001164711.1:c.90+174G>C	NP_001158183.1:n.90+174G>C
NM_001164712.1:c.175G>C	NP_001158184.1:p.Val59Leu
NR_028435.1:n.389G>C
NM_000481.4:c.175G>C MANE Select	NP_000472.2:p.Val59Leu
NM_001164710.2:c.175G>C	NP_001158182.1:p.Val59Leu
NM_001164711.2:c.90+174G>C	NP_001158183.1:n.90+174G>C
NM_001164712.2:c.175G>C	NP_001158184.1:p.Val59Leu
NR_028435.2:n.184G>C