Canonical Allele Identifier: CA5161422

Gene: ALDOB

Linked Data

• dbSNP Id: rs758781168
• ExAC: 9:104187156 G / A
• gnomAD v2: 9-104187156-G-A
• gnomAD v4: 9-101424874-G-A
• MyVariant Identifiers: chr9:g.104187156G>A (hg19) ; chr9:g.101424874G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101424874G>A , CM000671.2:g.101424874G>A	GRCh38
NC_000009.11:g.104187156G>A , CM000671.1:g.104187156G>A	GRCh37
NC_000009.10:g.103226977G>A	NCBI36
NG_012387.1:g.15907C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.968C>T MANE Select	ENSP00000497767.1:p.Ala323Val
ENST00000648064.1:c.968C>T	ENSP00000497990.1:p.Ala323Val
ENST00000648758.1:c.968C>T	ENSP00000497731.1:p.Ala323Val
ENST00000649902.1:c.968C>T	ENSP00000497216.1:p.Ala323Val
ENST00000374855.8:c.968C>T	ENSP00000363988.4:p.Ala323Val
ENST00000616752.1:c.931C>T	ENSP00000481363.1:p.Gln311Ter
NM_000035.3:c.968C>T	NP_000026.2:p.Ala323Val
NM_000035.4:c.968C>T MANE Select	NP_000026.2:p.Ala323Val