Canonical Allele Identifier: CA470468041

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82039944A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280188A>G , CM000672.2:g.80280188A>G	GRCh38
NC_000010.10:g.82039944A>G , CM000672.1:g.82039944A>G	GRCh37
NC_000010.9:g.82029924A>G	NCBI36
NG_008083.1:g.14491T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.534T>C MANE Select	ENSP00000361287.3:p.Pro178=
ENST00000372213.7:c.534T>C	ENSP00000361287.3:p.Pro178=
ENST00000455001.1:c.345T>C	ENSP00000414961.1:p.Pro115=
NM_000429.2:c.534T>C	NP_000420.1:p.Pro178=
XM_005269842.3:c.534T>C	XP_005269899.1:p.Pro178=
XM_005269843.3:c.411T>C	XP_005269900.1:p.Pro137=
NM_000429.3:c.534T>C MANE Select	NP_000420.1:p.Pro178=