Canonical Allele Identifier: CA5576670
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs762617869
ExAC: 10:82034815 C / A
gnomAD v2: 10-82034815-C-A
gnomAD v4: 10-80275059-C-A
MyVariant Identifiers: chr10:g.82034815C>A (hg19) chr10:g.80275059C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275059C>A , CM000672.2:g.80275059C>A GRCh38
NC_000010.10:g.82034815C>A , CM000672.1:g.82034815C>A GRCh37
NC_000010.9:g.82024795C>A NCBI36
NG_008083.1:g.19620G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.909G>T MANE Select ENSP00000361287.3:p.Lys303Asn
ENST00000372213.7:c.909G>T ENSP00000361287.3:p.Lys303Asn
ENST00000480845.1:n.141G>T
ENST00000485270.5:n.421G>T
NM_000429.2:c.909G>T NP_000420.1:p.Lys303Asn
XM_005269842.3:c.909G>T XP_005269899.1:p.Lys303Asn
XM_005269843.3:c.786G>T XP_005269900.1:p.Lys262Asn
NM_000429.3:c.909G>T MANE Select NP_000420.1:p.Lys303Asn
Search 100 bp 5'
Search 100 bp 3'