Canonical Allele Identifier: CA1086958667

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759233247
• gnomAD v3: 6-24502959-GATATA-G
• gnomAD v4: 6-24502959-GATATA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24502963_24502967del , CM000668.2:g.24502963_24502967del	GRCh38
NC_000006.11:g.24503191_24503195del , CM000668.1:g.24503191_24503195del	GRCh37
NC_000006.10:g.24611170_24611174del	NCBI36
NG_008161.1:g.12995_12999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.439-300_439-296del MANE Select	ENSP00000350191.3:n.439-300_439-296del
ENST00000672352.1:c.202-300_202-296del	ENSP00000500876.1:n.202-300_202-296del
ENST00000672557.1:c.356+200_356+204del
ENST00000672652.1:c.360-300_360-296del
ENST00000675422.1:n.1199-300_1199-296del
ENST00000348925.2:c.439-300_439-296del	ENSP00000314649.3:n.439-300_439-296del
ENST00000357578.7:c.439-300_439-296del	ENSP00000350191.3:n.439-300_439-296del
ENST00000491546.5:c.355-300_355-296del	ENSP00000417687.1:n.355-300_355-296del
NM_001080.3:c.439-300_439-296del MANE Select	NP_001071.1:n.439-300_439-296del
NM_170740.1:c.439-300_439-296del	NP_733936.1:n.439-300_439-296del
NM_001368954.1:c.439-300_439-296del	NP_001355883.1:n.439-300_439-296del