Canonical Allele Identifier: CA2609913969

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80280389-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80280390del , CM000672.2:g.80280390del	GRCh38
NC_000010.10:g.82040146del , CM000672.1:g.82040146del	GRCh37
NC_000010.9:g.82030126del	NCBI36
NG_008083.1:g.14289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.406-74del MANE Select	ENSP00000361287.3:n.406-74del
ENST00000372213.7:c.406-74del	ENSP00000361287.3:n.406-74del
ENST00000455001.1:c.217-74del	ENSP00000414961.1:n.217-74del
NM_000429.2:c.406-74del	NP_000420.1:n.406-74del
XM_005269842.3:c.406-74del	XP_005269899.1:n.406-74del
XM_005269843.3:c.283-74del	XP_005269900.1:n.283-74del
NM_000429.3:c.406-74del MANE Select	NP_000420.1:n.406-74del