Canonical Allele Identifier: CA470467177

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82033570G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273814G>A , CM000672.2:g.80273814G>A	GRCh38
NC_000010.10:g.82033570G>A , CM000672.1:g.82033570G>A	GRCh37
NC_000010.9:g.82023550G>A	NCBI36
NG_008083.1:g.20865C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1155C>T MANE Select	ENSP00000361287.3:p.Phe385=
ENST00000372213.7:c.1155C>T	ENSP00000361287.3:p.Phe385=
ENST00000480845.1:n.387C>T
ENST00000485270.5:n.667C>T
NM_000429.2:c.1155C>T	NP_000420.1:p.Phe385=
XM_005269842.3:c.1155C>T	XP_005269899.1:p.Phe385=
XM_005269843.3:c.1032C>T	XP_005269900.1:p.Phe344=
NM_000429.3:c.1155C>T MANE Select	NP_000420.1:p.Phe385=