Canonical Allele Identifier: CA210320905
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs777184287
gnomAD v2: 10-82033576-G-A
gnomAD v4: 10-80273820-G-A
COSMIC: COSM4016258
MyVariant Identifiers: chr10:g.82033576G>A (hg19) chr10:g.80273820G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273820G>A , CM000672.2:g.80273820G>A GRCh38
NC_000010.10:g.82033576G>A , CM000672.1:g.82033576G>A GRCh37
NC_000010.9:g.82023556G>A NCBI36
NG_008083.1:g.20859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.1149C>T MANE Select ENSP00000361287.3:p.Ser383=
ENST00000372213.7:c.1149C>T ENSP00000361287.3:p.Ser383=
ENST00000480845.1:n.381C>T
ENST00000485270.5:n.661C>T
NM_000429.2:c.1149C>T NP_000420.1:p.Ser383=
XM_005269842.3:c.1149C>T XP_005269899.1:p.Ser383=
XM_005269843.3:c.1026C>T XP_005269900.1:p.Ser342=
NM_000429.3:c.1149C>T MANE Select NP_000420.1:p.Ser383=
Search 100 bp 5'
Search 100 bp 3'