Canonical Allele Identifier: CA2609913618

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80276260-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80276261del , CM000672.2:g.80276261del	GRCh38
NC_000010.10:g.82036017del , CM000672.1:g.82036017del	GRCh37
NC_000010.9:g.82025997del	NCBI36
NG_008083.1:g.18418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.768+115del MANE Select	ENSP00000361287.3:n.768+115del
ENST00000372213.7:c.768+115del	ENSP00000361287.3:n.768+115del
NM_000429.2:c.768+115del	NP_000420.1:n.768+115del
XM_005269842.3:c.768+115del	XP_005269899.1:n.768+115del
XM_005269843.3:c.645+115del	XP_005269900.1:n.645+115del
NM_000429.3:c.768+115del MANE Select	NP_000420.1:n.768+115del