Canonical Allele Identifier: CA71515871

Gene: GADL1

Linked Data

• dbSNP Id: rs1038945745
• gnomAD v2: 3-30886768-A-G
• gnomAD v3: 3-30845276-A-G
• gnomAD v4: 3-30845276-A-G
• MyVariant Identifiers: chr3:g.30886768A>G (hg19) ; chr3:g.30845276A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30845276A>G , CM000665.2:g.30845276A>G	GRCh38
NC_000003.11:g.30886768A>G , CM000665.1:g.30886768A>G	GRCh37
NC_000003.10:g.30861772A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000282538.10:c.652-810T>C MANE Select	ENSP00000282538.5:n.652-810T>C
ENST00000282538.9:c.652-810T>C	ENSP00000282538.5:n.652-810T>C
ENST00000454381.3:c.652-810T>C	ENSP00000427059.1:n.652-810T>C
NM_207359.2:c.652-810T>C	NP_997242.2:n.652-810T>C
XM_017006297.1:c.595-810T>C	XP_016861786.1:n.595-810T>C
XM_017006298.1:c.-7-1012T>C	XP_016861787.1:n.-7-1012T>C
NM_207359.3:c.652-810T>C MANE Select	NP_997242.2:n.652-810T>C