Canonical Allele Identifier: CA5576637
Gene: MAT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2433652
ClinVar RCV Id: RCV003132600
dbSNP Id: rs757912932
ExAC: 10:82034358 A / G
gnomAD v2: 10-82034358-A-G
gnomAD v3: 10-80274602-A-G
gnomAD v4: 10-80274602-A-G
MyVariant Identifiers: chr10:g.82034358A>G (hg19) chr10:g.80274602A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80274602A>G , CM000672.2:g.80274602A>G GRCh38
NC_000010.10:g.82034358A>G , CM000672.1:g.82034358A>G GRCh37
NC_000010.9:g.82024338A>G NCBI36
NG_008083.1:g.20077T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.1003T>C MANE Select ENSP00000361287.3:p.Tyr335His
ENST00000372213.7:c.1003T>C ENSP00000361287.3:p.Tyr335His
ENST00000480845.1:n.235T>C
ENST00000485270.5:n.515T>C
NM_000429.2:c.1003T>C NP_000420.1:p.Tyr335His
XM_005269842.3:c.1003T>C XP_005269899.1:p.Tyr335His
XM_005269843.3:c.880T>C XP_005269900.1:p.Tyr294His
NM_000429.3:c.1003T>C MANE Select NP_000420.1:p.Tyr335His
Search 100 bp 5'
Search 100 bp 3'