Canonical Allele Identifier: CA71515757
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs975409645
gnomAD v2: 3-30886688-A-G
gnomAD v3: 3-30845196-A-G
gnomAD v4: 3-30845196-A-G
MyVariant Identifiers: chr3:g.30886688A>G (hg19) chr3:g.30845196A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845196A>G , CM000665.2:g.30845196A>G GRCh38
NC_000003.11:g.30886688A>G , CM000665.1:g.30886688A>G GRCh37
NC_000003.10:g.30861692A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-730T>C MANE Select ENSP00000282538.5:n.652-730T>C
ENST00000282538.9:c.652-730T>C ENSP00000282538.5:n.652-730T>C
ENST00000454381.3:c.652-730T>C ENSP00000427059.1:n.652-730T>C
NM_207359.2:c.652-730T>C NP_997242.2:n.652-730T>C
XM_017006297.1:c.595-730T>C XP_016861786.1:n.595-730T>C
XM_017006298.1:c.-7-932T>C XP_016861787.1:n.-7-932T>C
NM_207359.3:c.652-730T>C MANE Select NP_997242.2:n.652-730T>C
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