Canonical Allele Identifier: CA5161528

Gene: ALDOB

Linked Data

• dbSNP Id: rs755870963
• ExAC: 9:104188873 G / A
• gnomAD v2: 9-104188873-G-A
• gnomAD v4: 9-101426591-G-A
• MyVariant Identifiers: chr9:g.104188873G>A (hg19) ; chr9:g.101426591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101426591G>A , CM000671.2:g.101426591G>A	GRCh38
NC_000009.11:g.104188873G>A , CM000671.1:g.104188873G>A	GRCh37
NC_000009.10:g.103228694G>A	NCBI36
NG_012387.1:g.14190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647789.2:c.588C>T MANE Select	ENSP00000497767.1:p.Asp196=
ENST00000648064.1:c.588C>T	ENSP00000497990.1:p.Asp196=
ENST00000648758.1:c.588C>T	ENSP00000497731.1:p.Asp196=
ENST00000649902.1:c.588C>T	ENSP00000497216.1:p.Asp196=
ENST00000374855.8:c.588C>T	ENSP00000363988.4:p.Asp196=
ENST00000468981.3:n.115C>T
ENST00000616752.1:c.588C>T	ENSP00000481363.1:p.Asp196=
NM_000035.3:c.588C>T	NP_000026.2:p.Asp196=
NM_000035.4:c.588C>T MANE Select	NP_000026.2:p.Asp196=