Canonical Allele Identifier: CA196956826

Gene: ALDOB

Linked Data

• dbSNP Id: rs202031050
• gnomAD v4: 9-101425580-C-T
• MyVariant Identifiers: chr9:g.104187862C>T (hg19) ; chr9:g.101425580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101425580C>T , CM000671.2:g.101425580C>T	GRCh38
NC_000009.11:g.104187862C>T , CM000671.1:g.104187862C>T	GRCh37
NC_000009.10:g.103227683C>T	NCBI36
NG_012387.1:g.15201G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.672G>A MANE Select	ENSP00000497767.1:p.Leu224=
ENST00000648064.1:c.672G>A	ENSP00000497990.1:p.Leu224=
ENST00000648758.1:c.672G>A	ENSP00000497731.1:p.Leu224=
ENST00000649902.1:c.672G>A	ENSP00000497216.1:p.Leu224=
ENST00000374855.8:c.672G>A	ENSP00000363988.4:p.Leu224=
ENST00000468981.3:n.199G>A
ENST00000616752.1:c.672G>A	ENSP00000481363.1:p.Leu224=
NM_000035.3:c.672G>A	NP_000026.2:p.Leu224=
NM_000035.4:c.672G>A MANE Select	NP_000026.2:p.Leu224=