Canonical Allele Identifier: CA377360500

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 2782962
• ClinVar RCV Id: RCV003636142
• MyVariant Identifiers: chr10:g.82034396A>G (hg19) ; chr10:g.80274640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80274640A>G , CM000672.2:g.80274640A>G	GRCh38
NC_000010.10:g.82034396A>G , CM000672.1:g.82034396A>G	GRCh37
NC_000010.9:g.82024376A>G	NCBI36
NG_008083.1:g.20039T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000372213.8:c.965T>C MANE Select	ENSP00000361287.3:p.Ile322Thr
ENST00000372213.7:c.965T>C	ENSP00000361287.3:p.Ile322Thr
ENST00000480845.1:n.197T>C
ENST00000485270.5:n.477T>C
NM_000429.2:c.965T>C	NP_000420.1:p.Ile322Thr
XM_005269842.3:c.965T>C	XP_005269899.1:p.Ile322Thr
XM_005269843.3:c.842T>C	XP_005269900.1:p.Ile281Thr
NM_000429.3:c.965T>C MANE Select	NP_000420.1:p.Ile322Thr