Canonical Allele Identifier: CA594462566

Gene: MAT1A

Linked Data

• dbSNP Id: rs1268588492
• gnomAD v2: 10-82040092-T-C
• gnomAD v3: 10-80280336-T-C
• gnomAD v4: 10-80280336-T-C
• MyVariant Identifiers: chr10:g.82040092T>C (hg19) ; chr10:g.80280336T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280336T>C , CM000672.2:g.80280336T>C	GRCh38
NC_000010.10:g.82040092T>C , CM000672.1:g.82040092T>C	GRCh37
NC_000010.9:g.82030072T>C	NCBI36
NG_008083.1:g.14343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.406-20A>G MANE Select	ENSP00000361287.3:n.406-20A>G
ENST00000372213.7:c.406-20A>G	ENSP00000361287.3:n.406-20A>G
ENST00000455001.1:c.217-20A>G	ENSP00000414961.1:n.217-20A>G
NM_000429.2:c.406-20A>G	NP_000420.1:n.406-20A>G
XM_005269842.3:c.406-20A>G	XP_005269899.1:n.406-20A>G
XM_005269843.3:c.283-20A>G	XP_005269900.1:n.283-20A>G
NM_000429.3:c.406-20A>G MANE Select	NP_000420.1:n.406-20A>G