Canonical Allele Identifier: CA377361624

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82036150A>T (hg19) ; chr10:g.80276394A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80276394A>T , CM000672.2:g.80276394A>T	GRCh38
NC_000010.10:g.82036150A>T , CM000672.1:g.82036150A>T	GRCh37
NC_000010.9:g.82026130A>T	NCBI36
NG_008083.1:g.18285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.750T>A MANE Select	ENSP00000361287.3:p.Phe250Leu
ENST00000372213.7:c.750T>A	ENSP00000361287.3:p.Phe250Leu
NM_000429.2:c.750T>A	NP_000420.1:p.Phe250Leu
XM_005269842.3:c.750T>A	XP_005269899.1:p.Phe250Leu
XM_005269843.3:c.627T>A	XP_005269900.1:p.Phe209Leu
NM_000429.3:c.750T>A MANE Select	NP_000420.1:p.Phe250Leu