Canonical Allele Identifier: CA690978454
Gene: GAPDH HGNC NCBI

Linked Data

dbSNP Id: rs371892266
gnomAD v3: 12-6534678-T-G
gnomAD v4: 12-6534678-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6534678T>G , CM000674.2:g.6534678T>G GRCh38
NC_000012.11:g.6643844T>G , CM000674.1:g.6643844T>G GRCh37
NC_000012.10:g.6514105T>G NCBI36
NG_007073.2:g.5188T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000229239.10:c.-24+109T>G MANE Select ENSP00000229239.5:n.-24+109T>G
ENST00000229239.9:c.-24+109T>G ENSP00000229239.5:n.-24+109T>G
ENST00000396856.5:c.-276+109T>G ENSP00000380065.1:n.-276+109T>G
ENST00000396861.5:c.-24+17T>G ENSP00000380070.1:n.-24+17T>G
ENST00000474249.5:n.29+109T>G
ENST00000492719.5:n.37+109T>G
ENST00000496049.1:n.58+109T>G
NM_001289745.1:c.-24+17T>G NP_001276674.1:n.-24+17T>G
NM_001289746.1:c.-155T>G NP_001276675.1:n.-155T>G
NM_002046.5:c.-24+109T>G NP_002037.2:n.-24+109T>G
NM_001289745.2:c.-24+17T>G NP_001276674.1:n.-24+17T>G
NM_001357943.1:c.-24+109T>G NP_001344872.1:n.-24+109T>G
NM_002046.6:c.-24+109T>G NP_002037.2:n.-24+109T>G
NR_152150.1:n.53+109T>G
NM_002046.7:c.-24+109T>G MANE Select NP_002037.2:n.-24+109T>G
NM_001289745.3:c.-24+17T>G NP_001276674.1:n.-24+17T>G
NM_001289746.2:c.-155T>G NP_001276675.1:n.-155T>G
NM_001357943.2:c.-24+109T>G NP_001344872.1:n.-24+109T>G
NR_152150.2:n.53+109T>G