Canonical Allele Identifier: CA541682337
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs1467679640
gnomAD v2: 3-30886693-T-G
gnomAD v3: 3-30845201-T-G
gnomAD v4: 3-30845201-T-G
MyVariant Identifiers: chr3:g.30886693T>G (hg19) chr3:g.30845201T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845201T>G , CM000665.2:g.30845201T>G GRCh38
NC_000003.11:g.30886693T>G , CM000665.1:g.30886693T>G GRCh37
NC_000003.10:g.30861697T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-735A>C MANE Select ENSP00000282538.5:n.652-735A>C
ENST00000282538.9:c.652-735A>C ENSP00000282538.5:n.652-735A>C
ENST00000454381.3:c.652-735A>C ENSP00000427059.1:n.652-735A>C
NM_207359.2:c.652-735A>C NP_997242.2:n.652-735A>C
XM_017006297.1:c.595-735A>C XP_016861786.1:n.595-735A>C
XM_017006298.1:c.-7-937A>C XP_016861787.1:n.-7-937A>C
NM_207359.3:c.652-735A>C MANE Select NP_997242.2:n.652-735A>C
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