Canonical Allele Identifier: CA891843135
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495100_24495123del , CM000668.2:g.24495100_24495123del GRCh38
NC_000006.11:g.24495328_24495351del , CM000668.1:g.24495328_24495351del GRCh37
NC_000006.10:g.24603307_24603330del NCBI36
NG_008161.1:g.5132_5155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.104_127del (ALDH5A1) MANE Select ENSP00000350191.3:p.Ser35Ter
ENST00000672652.1:c.25_48del (ALDH5A1)
ENST00000348925.2:c.104_127del (ALDH5A1) ENSP00000314649.3:p.Ser35Ter
ENST00000357578.7:c.104_127del (ALDH5A1) ENSP00000350191.3:p.Ser35Ter
ENST00000474784.5:n.83_106del (GPLD1)
ENST00000475417.1:n.77_100del (GPLD1)
ENST00000491546.5:c.104_127del (ALDH5A1) ENSP00000417687.1:p.Ser35Ter
NM_001080.3:c.104_127del (ALDH5A1) MANE Select NP_001071.1:p.Ser35Ter
NM_170740.1:c.104_127del (ALDH5A1) NP_733936.1:p.Ser35Ter
XM_017010753.2:c.-113_-90del (GPLD1) XP_016866242.1:n.-113_-90del
XR_002956277.1:n.110_133del (GPLD1)
NM_001368954.1:c.104_127del (ALDH5A1) NP_001355883.1:p.Ser35Ter