Canonical Allele Identifier: CA377360661
Gene: MAT1A HGNC NCBI

Linked Data

dbSNP Id: rs1276652016
gnomAD v2: 10-82034835-C-T
gnomAD v4: 10-80275079-C-T
MyVariant Identifiers: chr10:g.82034835C>T (hg19) chr10:g.80275079C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275079C>T , CM000672.2:g.80275079C>T GRCh38
NC_000010.10:g.82034835C>T , CM000672.1:g.82034835C>T GRCh37
NC_000010.9:g.82024815C>T NCBI36
NG_008083.1:g.19600G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000372213.8:c.889G>A MANE Select ENSP00000361287.3:p.Ala297Thr
ENST00000372213.7:c.889G>A ENSP00000361287.3:p.Ala297Thr
ENST00000480845.1:n.121G>A
ENST00000485270.5:n.401G>A
NM_000429.2:c.889G>A NP_000420.1:p.Ala297Thr
XM_005269842.3:c.889G>A XP_005269899.1:p.Ala297Thr
XM_005269843.3:c.766G>A XP_005269900.1:p.Ala256Thr
NM_000429.3:c.889G>A MANE Select NP_000420.1:p.Ala297Thr
Search 100 bp 5'
Search 100 bp 3'