Canonical Allele Identifier: CA1046457359
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs544139634
gnomAD v3: 3-30845223-C-G
gnomAD v4: 3-30845223-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845223C>G , CM000665.2:g.30845223C>G GRCh38
NC_000003.11:g.30886715C>G , CM000665.1:g.30886715C>G GRCh37
NC_000003.10:g.30861719C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282538.10:c.652-757G>C MANE Select ENSP00000282538.5:n.652-757G>C
ENST00000282538.9:c.652-757G>C ENSP00000282538.5:n.652-757G>C
ENST00000454381.3:c.652-757G>C ENSP00000427059.1:n.652-757G>C
NM_207359.2:c.652-757G>C NP_997242.2:n.652-757G>C
XM_017006297.1:c.595-757G>C XP_016861786.1:n.595-757G>C
XM_017006298.1:c.-7-959G>C XP_016861787.1:n.-7-959G>C
NM_207359.3:c.652-757G>C MANE Select NP_997242.2:n.652-757G>C
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