Canonical Allele Identifier: CA71516032

Gene: GADL1

Linked Data

• dbSNP Id: rs191473619
• gnomAD v2: 3-30886912-A-G
• gnomAD v3: 3-30845420-A-G
• gnomAD v4: 3-30845420-A-G
• MyVariant Identifiers: chr3:g.30886912A>G (hg19) ; chr3:g.30886912_30886913delinsGT (hg19) ; chr3:g.30845420A>G (hg38) ; chr3:g.30845420_30845421delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30845420A>G , CM000665.2:g.30845420A>G	GRCh38
NC_000003.11:g.30886912A>G , CM000665.1:g.30886912A>G	GRCh37
NC_000003.10:g.30861916A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282538.10:c.652-954T>C MANE Select	ENSP00000282538.5:n.652-954T>C
ENST00000282538.9:c.652-954T>C	ENSP00000282538.5:n.652-954T>C
ENST00000454381.3:c.652-954T>C	ENSP00000427059.1:n.652-954T>C
NM_207359.2:c.652-954T>C	NP_997242.2:n.652-954T>C
XM_017006297.1:c.595-954T>C	XP_016861786.1:n.595-954T>C
XM_017006298.1:c.-7-1156T>C	XP_016861787.1:n.-7-1156T>C
NM_207359.3:c.652-954T>C MANE Select	NP_997242.2:n.652-954T>C