Canonical Allele Identifier: CA374264143

Gene: ALDOB

Linked Data

• dbSNP Id: rs2118333238
• gnomAD v4: 9-101421905-C-A
• MyVariant Identifiers: chr9:g.104184187C>A (hg19) ; chr9:g.101421905C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101421905C>A , CM000671.2:g.101421905C>A	GRCh38
NC_000009.11:g.104184187C>A , CM000671.1:g.104184187C>A	GRCh37
NC_000009.10:g.103224008C>A	NCBI36
NG_012387.1:g.18876G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.1000-1G>T MANE Select	ENSP00000497767.1:n.1000-1G>T
ENST00000648064.1:c.1000-1G>T	ENSP00000497990.1:n.1000-1G>T
ENST00000648758.1:c.1000-1G>T	ENSP00000497731.1:n.1000-1G>T
ENST00000374855.8:c.1000-1G>T	ENSP00000363988.4:n.1000-1G>T
ENST00000616752.1:c.*12-1G>T	ENSP00000481363.1:n.*12-1G>T
NM_000035.3:c.1000-1G>T	NP_000026.2:n.1000-1G>T
NM_000035.4:c.1000-1G>T MANE Select	NP_000026.2:n.1000-1G>T