Canonical Allele Identifier: CA377360116

Gene: MAT1A

Linked Data

• MyVariant Identifiers: chr10:g.82033587A>G (hg19) ; chr10:g.80273831A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273831A>G , CM000672.2:g.80273831A>G	GRCh38
NC_000010.10:g.82033587A>G , CM000672.1:g.82033587A>G	GRCh37
NC_000010.9:g.82023567A>G	NCBI36
NG_008083.1:g.20848T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.1138T>C MANE Select	ENSP00000361287.3:p.Phe380Leu
ENST00000372213.7:c.1138T>C	ENSP00000361287.3:p.Phe380Leu
ENST00000480845.1:n.370T>C
ENST00000485270.5:n.650T>C
NM_000429.2:c.1138T>C	NP_000420.1:p.Phe380Leu
XM_005269842.3:c.1138T>C	XP_005269899.1:p.Phe380Leu
XM_005269843.3:c.1015T>C	XP_005269900.1:p.Phe339Leu
NM_000429.3:c.1138T>C MANE Select	NP_000420.1:p.Phe380Leu