Canonical Allele Identifier: CA906173235
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs1192686188
gnomAD v3: 3-30845154-A-G
gnomAD v4: 3-30845154-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845154A>G , CM000665.2:g.30845154A>G GRCh38
NC_000003.11:g.30886646A>G , CM000665.1:g.30886646A>G GRCh37
NC_000003.10:g.30861650A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-688T>C MANE Select ENSP00000282538.5:n.652-688T>C
ENST00000282538.9:c.652-688T>C ENSP00000282538.5:n.652-688T>C
ENST00000454381.3:c.652-688T>C ENSP00000427059.1:n.652-688T>C
NM_207359.2:c.652-688T>C NP_997242.2:n.652-688T>C
XM_017006297.1:c.595-688T>C XP_016861786.1:n.595-688T>C
XM_017006298.1:c.-7-890T>C XP_016861787.1:n.-7-890T>C
NM_207359.3:c.652-688T>C MANE Select NP_997242.2:n.652-688T>C