Canonical Allele Identifier: CA2609912568

Gene: MAT1A

Linked Data

• gnomAD v4: 10-80273581-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273582_80273583del , CM000672.2:g.80273582_80273583del	GRCh38
NC_000010.10:g.82033338_82033339del , CM000672.1:g.82033338_82033339del	GRCh37
NC_000010.9:g.82023318_82023319del	NCBI36
NG_008083.1:g.21096_21097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*198_*199del MANE Select	ENSP00000361287.3:n.*198_*199del
ENST00000372213.7:c.*198_*199del	ENSP00000361287.3:n.*198_*199del
ENST00000480845.1:n.618_619del
ENST00000485270.5:n.898_899del
NM_000429.2:c.*198_*199del	NP_000420.1:n.*198_*199del
XM_005269842.3:c.*198_*199del	XP_005269899.1:n.*198_*199del
XM_005269843.3:c.*198_*199del	XP_005269900.1:n.*198_*199del
NM_000429.3:c.*198_*199del MANE Select	NP_000420.1:n.*198_*199del