Canonical Allele Identifier: CA71515676
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs979752644
gnomAD v2: 3-30886658-C-T
gnomAD v3: 3-30845166-C-T
gnomAD v4: 3-30845166-C-T
MyVariant Identifiers: chr3:g.30886658C>T (hg19) chr3:g.30845166C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845166C>T , CM000665.2:g.30845166C>T GRCh38
NC_000003.11:g.30886658C>T , CM000665.1:g.30886658C>T GRCh37
NC_000003.10:g.30861662C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-700G>A MANE Select ENSP00000282538.5:n.652-700G>A
ENST00000282538.9:c.652-700G>A ENSP00000282538.5:n.652-700G>A
ENST00000454381.3:c.652-700G>A ENSP00000427059.1:n.652-700G>A
NM_207359.2:c.652-700G>A NP_997242.2:n.652-700G>A
XM_017006297.1:c.595-700G>A XP_016861786.1:n.595-700G>A
XM_017006298.1:c.-7-902G>A XP_016861787.1:n.-7-902G>A
NM_207359.3:c.652-700G>A MANE Select NP_997242.2:n.652-700G>A
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