Canonical Allele Identifier: CA5576714

Gene: MAT1A

Linked Data

• ClinVar Variation Id: 2733306
• ClinVar RCV Id: RCV003525226
• dbSNP Id: rs764919108
• ExAC: 10:82036112 G / A
• gnomAD v2: 10-82036112-G-A
• gnomAD v3: 10-80276356-G-A
• gnomAD v4: 10-80276356-G-A
• MyVariant Identifiers: chr10:g.82036112G>A (hg19) ; chr10:g.80276356G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80276356G>A , CM000672.2:g.80276356G>A	GRCh38
NC_000010.10:g.82036112G>A , CM000672.1:g.82036112G>A	GRCh37
NC_000010.9:g.82026092G>A	NCBI36
NG_008083.1:g.18323C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.768+20C>T MANE Select	ENSP00000361287.3:n.768+20C>T
ENST00000372213.7:c.768+20C>T	ENSP00000361287.3:n.768+20C>T
NM_000429.2:c.768+20C>T	NP_000420.1:n.768+20C>T
XM_005269842.3:c.768+20C>T	XP_005269899.1:n.768+20C>T
XM_005269843.3:c.645+20C>T	XP_005269900.1:n.645+20C>T
NM_000429.3:c.768+20C>T MANE Select	NP_000420.1:n.768+20C>T