Canonical Allele Identifier: CA2695206037

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503362_24503369delinsTACACCCT , CM000668.2:g.24503362_24503369delinsTACACCCT	GRCh38
NC_000006.11:g.24503590_24503597delinsTACACCCT , CM000668.1:g.24503590_24503597delinsTACACCCT	GRCh37
NC_000006.10:g.24611569_24611576delinsTACACCCT	NCBI36
NG_008161.1:g.13394_13401delinsTACACCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.538_545delinsTACACCCT MANE Select	ENSP00000350191.3:p.His180_Pro182delinsTyrThrLeu
ENST00000672352.1:c.301_308delinsTACACCCT	ENSP00000500876.1:p.His101_Pro103delinsTyrThrLeu
ENST00000672557.1:c.456_463delinsTACACCCT
ENST00000672652.1:c.459_466delinsTACACCCT
ENST00000675422.1:n.1298_1305delinsTACACCCT
ENST00000348925.2:c.538_545delinsTACACCCT	ENSP00000314649.3:p.His180_Pro182delinsTyrThrLeu
ENST00000357578.7:c.538_545delinsTACACCCT	ENSP00000350191.3:p.His180_Pro182delinsTyrThrLeu
ENST00000491546.5:c.454_461delinsTACACCCT	ENSP00000417687.1:p.His152_Pro154delinsTyrThrLeu
NM_001080.3:c.538_545delinsTACACCCT MANE Select	NP_001071.1:p.His180_Pro182delinsTyrThrLeu
NM_170740.1:c.538_545delinsTACACCCT	NP_733936.1:p.His180_Pro182delinsTyrThrLeu
NM_001368954.1:c.538_545delinsTACACCCT	NP_001355883.1:p.His180_Pro182delinsTyrThrLeu