Canonical Allele Identifier: CA232399864
Gene: GAPDH HGNC NCBI

Linked Data

dbSNP Id: rs528502920
gnomAD v2: 12-6643712-C-T
gnomAD v3: 12-6534546-C-T
gnomAD v4: 12-6534546-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6534546C>T , CM000674.2:g.6534546C>T GRCh38
NC_000012.11:g.6643712C>T , CM000674.1:g.6643712C>T GRCh37
NC_000012.10:g.6513973C>T NCBI36
NG_007073.2:g.5056C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000229239.10:c.-47C>T MANE Select ENSP00000229239.5:n.-47C>T
ENST00000229239.9:c.-47C>T ENSP00000229239.5:n.-47C>T
ENST00000396856.5:c.-299C>T ENSP00000380065.1:n.-299C>T
ENST00000396861.5:c.-139C>T ENSP00000380070.1:n.-139C>T
ENST00000474249.5:n.6C>T
ENST00000492719.5:n.14C>T
ENST00000496049.1:n.35C>T
NM_001289745.1:c.-139C>T NP_001276674.1:n.-139C>T
NM_002046.5:c.-47C>T NP_002037.2:n.-47C>T
NM_001289745.2:c.-139C>T NP_001276674.1:n.-139C>T
NM_001357943.1:c.-47C>T NP_001344872.1:n.-47C>T
NM_002046.6:c.-47C>T NP_002037.2:n.-47C>T
NR_152150.1:n.30C>T
NM_002046.7:c.-47C>T MANE Select NP_002037.2:n.-47C>T
NM_001289745.3:c.-139C>T NP_001276674.1:n.-139C>T
NM_001289746.2:c.-287C>T NP_001276675.1:n.-287C>T
NM_001357943.2:c.-47C>T NP_001344872.1:n.-47C>T
NR_152150.2:n.30C>T