Canonical Allele Identifier: CA470467475
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80276457-G-C
MyVariant Identifiers: chr10:g.82036213G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80276457G>C , CM000672.2:g.80276457G>C GRCh38
NC_000010.10:g.82036213G>C , CM000672.1:g.82036213G>C GRCh37
NC_000010.9:g.82026193G>C NCBI36
NG_008083.1:g.18222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.687C>G MANE Select ENSP00000361287.3:p.Ala229=
ENST00000372213.7:c.687C>G ENSP00000361287.3:p.Ala229=
NM_000429.2:c.687C>G NP_000420.1:p.Ala229=
XM_005269842.3:c.687C>G XP_005269899.1:p.Ala229=
XM_005269843.3:c.564C>G XP_005269900.1:p.Ala188=
NM_000429.3:c.687C>G MANE Select NP_000420.1:p.Ala229=
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