Canonical Allele Identifier: CA470468249

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82039977G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280221G>C , CM000672.2:g.80280221G>C	GRCh38
NC_000010.10:g.82039977G>C , CM000672.1:g.82039977G>C	GRCh37
NC_000010.9:g.82029957G>C	NCBI36
NG_008083.1:g.14458C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.501C>G MANE Select	ENSP00000361287.3:p.Leu167=
ENST00000372213.7:c.501C>G	ENSP00000361287.3:p.Leu167=
ENST00000455001.1:c.312C>G	ENSP00000414961.1:p.Leu104=
NM_000429.2:c.501C>G	NP_000420.1:p.Leu167=
XM_005269842.3:c.501C>G	XP_005269899.1:p.Leu167=
XM_005269843.3:c.378C>G	XP_005269900.1:p.Leu126=
NM_000429.3:c.501C>G MANE Select	NP_000420.1:p.Leu167=