Canonical Allele Identifier: CA470467328

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82034809C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80275053C>G , CM000672.2:g.80275053C>G	GRCh38
NC_000010.10:g.82034809C>G , CM000672.1:g.82034809C>G	GRCh37
NC_000010.9:g.82024789C>G	NCBI36
NG_008083.1:g.19626G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.915G>C MANE Select	ENSP00000361287.3:p.Leu305=
ENST00000372213.7:c.915G>C	ENSP00000361287.3:p.Leu305=
ENST00000480845.1:n.147G>C
ENST00000485270.5:n.427G>C
NM_000429.2:c.915G>C	NP_000420.1:p.Leu305=
XM_005269842.3:c.915G>C	XP_005269899.1:p.Leu305=
XM_005269843.3:c.792G>C	XP_005269900.1:p.Leu264=
NM_000429.3:c.915G>C MANE Select	NP_000420.1:p.Leu305=