Canonical Allele Identifier: CA5161498
Gene: ALDOB HGNC NCBI

Linked Data

dbSNP Id: rs752431371
ExAC: 9:104187832 CA / C
gnomAD v2: 9-104187832-CA-C
gnomAD v3: 9-101425550-CA-C
gnomAD v4: 9-101425550-CA-C
MyVariant Identifiers: chr9:g.104187833del (hg19) chr9:g.101425551del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101425551del , CM000671.2:g.101425551del GRCh38
NC_000009.11:g.104187833del , CM000671.1:g.104187833del GRCh37
NC_000009.10:g.103227654del NCBI36
NG_012387.1:g.15230del

Transcript Alleles

HGVS Amino-acid Change
ENST00000647789.2:c.701del MANE Select ENSP00000497767.1:p.Val234GlyfsTer16
ENST00000648064.1:c.701del ENSP00000497990.1:p.Val234GlyfsTer16
ENST00000648758.1:c.701del ENSP00000497731.1:p.Val234GlyfsTer16
ENST00000649902.1:c.701del ENSP00000497216.1:p.Val234GlyfsTer16
ENST00000374855.8:c.701del ENSP00000363988.4:p.Val234GlyfsTer16
ENST00000616752.1:c.701del ENSP00000481363.1:p.Val234GlyfsTer16
NM_000035.3:c.701del NP_000026.2:p.Val234GlyfsTer16
NM_000035.4:c.701del MANE Select NP_000026.2:p.Val234GlyfsTer16
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Search 100 bp 3'