Canonical Allele Identifier: CA71515692
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs17026685
gnomAD v2: 3-30886679-G-A
gnomAD v3: 3-30845187-G-A
gnomAD v4: 3-30845187-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845187G>A , CM000665.2:g.30845187G>A GRCh38
NC_000003.11:g.30886679G>A , CM000665.1:g.30886679G>A GRCh37
NC_000003.10:g.30861683G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282538.10:c.652-721C>T MANE Select ENSP00000282538.5:n.652-721C>T
ENST00000282538.9:c.652-721C>T ENSP00000282538.5:n.652-721C>T
ENST00000454381.3:c.652-721C>T ENSP00000427059.1:n.652-721C>T
NM_207359.2:c.652-721C>T NP_997242.2:n.652-721C>T
XM_017006297.1:c.595-721C>T XP_016861786.1:n.595-721C>T
XM_017006298.1:c.-7-923C>T XP_016861787.1:n.-7-923C>T
NM_207359.3:c.652-721C>T MANE Select NP_997242.2:n.652-721C>T