Canonical Allele Identifier: CA377360588
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80275040-G-C
MyVariant Identifiers: chr10:g.82034796G>C (hg19) chr10:g.80275040G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80275040G>C , CM000672.2:g.80275040G>C GRCh38
NC_000010.10:g.82034796G>C , CM000672.1:g.82034796G>C GRCh37
NC_000010.9:g.82024776G>C NCBI36
NG_008083.1:g.19639C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.928C>G MANE Select ENSP00000361287.3:p.Leu310Val
ENST00000372213.7:c.928C>G ENSP00000361287.3:p.Leu310Val
ENST00000480845.1:n.160C>G
ENST00000485270.5:n.440C>G
NM_000429.2:c.928C>G NP_000420.1:p.Leu310Val
XM_005269842.3:c.928C>G XP_005269899.1:p.Leu310Val
XM_005269843.3:c.805C>G XP_005269900.1:p.Leu269Val
NM_000429.3:c.928C>G MANE Select NP_000420.1:p.Leu310Val
Search 100 bp 5'
Search 100 bp 3'