Canonical Allele Identifier: CA668884083
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1415934745
gnomAD v3: 10-80273424-C-A
gnomAD v4: 10-80273424-C-A
MyVariant Identifiers: chr10:g.82033180C>A (hg19) chr10:g.80273424C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273424C>A , CM000672.2:g.80273424C>A GRCh38
NC_000010.10:g.82033180C>A , CM000672.1:g.82033180C>A GRCh37
NC_000010.9:g.82023160C>A NCBI36
NG_008083.1:g.21255G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*357G>T MANE Select ENSP00000361287.3:n.*357G>T
ENST00000372213.7:c.*357G>T ENSP00000361287.3:n.*357G>T
ENST00000480845.1:n.620+157G>T
ENST00000485270.5:n.1057G>T
NM_000429.2:c.*357G>T NP_000420.1:n.*357G>T
XM_005269842.3:c.*357G>T XP_005269899.1:n.*357G>T
XM_005269843.3:c.*357G>T XP_005269900.1:n.*357G>T
NM_000429.3:c.*357G>T MANE Select NP_000420.1:n.*357G>T
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