Canonical Allele Identifier: CA2609912649
Gene: MAT1A HGNC NCBI

Linked Data

gnomAD v4: 10-80273666-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80273667del , CM000672.2:g.80273667del GRCh38
NC_000010.10:g.82033423del , CM000672.1:g.82033423del GRCh37
NC_000010.9:g.82023403del NCBI36
NG_008083.1:g.21012del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372213.8:c.*114del MANE Select ENSP00000361287.3:n.*114del
ENST00000372213.7:c.*114del ENSP00000361287.3:n.*114del
ENST00000480845.1:n.534del
ENST00000485270.5:n.814del
NM_000429.2:c.*114del NP_000420.1:n.*114del
XM_005269842.3:c.*114del XP_005269899.1:n.*114del
XM_005269843.3:c.*114del XP_005269900.1:n.*114del
NM_000429.3:c.*114del MANE Select NP_000420.1:n.*114del
Search 100 bp 5'
Search 100 bp 3'