Canonical Allele Identifier: CA541682343
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs1365458644
gnomAD v2: 3-30886794-T-A
gnomAD v3: 3-30845302-T-A
gnomAD v4: 3-30845302-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845302T>A , CM000665.2:g.30845302T>A GRCh38
NC_000003.11:g.30886794T>A , CM000665.1:g.30886794T>A GRCh37
NC_000003.10:g.30861798T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000282538.10:c.652-836A>T MANE Select ENSP00000282538.5:n.652-836A>T
ENST00000282538.9:c.652-836A>T ENSP00000282538.5:n.652-836A>T
ENST00000454381.3:c.652-836A>T ENSP00000427059.1:n.652-836A>T
NM_207359.2:c.652-836A>T NP_997242.2:n.652-836A>T
XM_017006297.1:c.595-836A>T XP_016861786.1:n.595-836A>T
XM_017006298.1:c.-7-1038A>T XP_016861787.1:n.-7-1038A>T
NM_207359.3:c.652-836A>T MANE Select NP_997242.2:n.652-836A>T