Canonical Allele Identifier: CA906173286
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs1324299410
gnomAD v3: 3-30845181-G-T
gnomAD v4: 3-30845181-G-T
MyVariant Identifiers: chr3:g.30886673G>T (hg19) chr3:g.30845181G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845181G>T , CM000665.2:g.30845181G>T GRCh38
NC_000003.11:g.30886673G>T , CM000665.1:g.30886673G>T GRCh37
NC_000003.10:g.30861677G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-715C>A MANE Select ENSP00000282538.5:n.652-715C>A
ENST00000282538.9:c.652-715C>A ENSP00000282538.5:n.652-715C>A
ENST00000454381.3:c.652-715C>A ENSP00000427059.1:n.652-715C>A
NM_207359.2:c.652-715C>A NP_997242.2:n.652-715C>A
XM_017006297.1:c.595-715C>A XP_016861786.1:n.595-715C>A
XM_017006298.1:c.-7-917C>A XP_016861787.1:n.-7-917C>A
NM_207359.3:c.652-715C>A MANE Select NP_997242.2:n.652-715C>A
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