Canonical Allele Identifier: CA5576676
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs755939318
ExAC: 10:82034834 G / T
gnomAD v4: 10-80275078-G-T
MyVariant Identifiers: chr10:g.82034834G>T (hg19) chr10:g.80275078G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275078G>T , CM000672.2:g.80275078G>T GRCh38
NC_000010.10:g.82034834G>T , CM000672.1:g.82034834G>T GRCh37
NC_000010.9:g.82024814G>T NCBI36
NG_008083.1:g.19601C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.890C>A MANE Select ENSP00000361287.3:p.Ala297Asp
ENST00000372213.7:c.890C>A ENSP00000361287.3:p.Ala297Asp
ENST00000480845.1:n.122C>A
ENST00000485270.5:n.402C>A
NM_000429.2:c.890C>A NP_000420.1:p.Ala297Asp
XM_005269842.3:c.890C>A XP_005269899.1:p.Ala297Asp
XM_005269843.3:c.767C>A XP_005269900.1:p.Ala256Asp
NM_000429.3:c.890C>A MANE Select NP_000420.1:p.Ala297Asp
Search 100 bp 5'
Search 100 bp 3'