Canonical Allele Identifier: CA377360702

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82034856C>A (hg19) ; chr10:g.80275100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275100C>A , CM000672.2:g.80275100C>A	GRCh38
NC_000010.10:g.82034856C>A , CM000672.1:g.82034856C>A	GRCh37
NC_000010.9:g.82024836C>A	NCBI36
NG_008083.1:g.19579G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.868G>T MANE Select	ENSP00000361287.3:p.Val290Leu
ENST00000372213.7:c.868G>T	ENSP00000361287.3:p.Val290Leu
ENST00000480845.1:n.100G>T
ENST00000485270.5:n.380G>T
NM_000429.2:c.868G>T	NP_000420.1:p.Val290Leu
XM_005269842.3:c.868G>T	XP_005269899.1:p.Val290Leu
XM_005269843.3:c.745G>T	XP_005269900.1:p.Val249Leu
NM_000429.3:c.868G>T MANE Select	NP_000420.1:p.Val290Leu