Canonical Allele Identifier: CA823323171
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1206143565
gnomAD v3: 6-24502929-AT-A
gnomAD v4: 6-24502929-AT-A
MyVariant Identifiers: chr6:g.24503158del (hg19) chr6:g.24502930del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24502935del , CM000668.2:g.24502935del GRCh38
NC_000006.11:g.24503163del , CM000668.1:g.24503163del GRCh37
NC_000006.10:g.24611142del NCBI36
NG_008161.1:g.12967del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.439-328del MANE Select ENSP00000350191.3:n.439-328del
ENST00000672352.1:c.202-328del ENSP00000500876.1:n.202-328del
ENST00000672557.1:c.356+172del
ENST00000672652.1:c.360-328del
ENST00000675422.1:n.1199-328del
ENST00000348925.2:c.439-328del ENSP00000314649.3:n.439-328del
ENST00000357578.7:c.439-328del ENSP00000350191.3:n.439-328del
ENST00000491546.5:c.355-328del ENSP00000417687.1:n.355-328del
NM_001080.3:c.439-328del MANE Select NP_001071.1:n.439-328del
NM_170740.1:c.439-328del NP_733936.1:n.439-328del
NM_001368954.1:c.439-328del NP_001355883.1:n.439-328del
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