Canonical Allele Identifier: CA71515784
Gene: GADL1 HGNC NCBI

Linked Data

dbSNP Id: rs922625378
gnomAD v2: 3-30886691-G-C
gnomAD v3: 3-30845199-G-C
gnomAD v4: 3-30845199-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.30845199G>C , CM000665.2:g.30845199G>C GRCh38
NC_000003.11:g.30886691G>C , CM000665.1:g.30886691G>C GRCh37
NC_000003.10:g.30861695G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000282538.10:c.652-733C>G MANE Select ENSP00000282538.5:n.652-733C>G
ENST00000282538.9:c.652-733C>G ENSP00000282538.5:n.652-733C>G
ENST00000454381.3:c.652-733C>G ENSP00000427059.1:n.652-733C>G
NM_207359.2:c.652-733C>G NP_997242.2:n.652-733C>G
XM_017006297.1:c.595-733C>G XP_016861786.1:n.595-733C>G
XM_017006298.1:c.-7-935C>G XP_016861787.1:n.-7-935C>G
NM_207359.3:c.652-733C>G MANE Select NP_997242.2:n.652-733C>G