Canonical Allele Identifier: CA5161507

Gene: ALDOB

Linked Data

• dbSNP Id: rs754791588
• ExAC: 9:104187863 A / G
• gnomAD v2: 9-104187863-A-G
• gnomAD v4: 9-101425581-A-G
• MyVariant Identifiers: chr9:g.104187863A>G (hg19) ; chr9:g.101425581A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101425581A>G , CM000671.2:g.101425581A>G	GRCh38
NC_000009.11:g.104187863A>G , CM000671.1:g.104187863A>G	GRCh37
NC_000009.10:g.103227684A>G	NCBI36
NG_012387.1:g.15200T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.671T>C MANE Select	ENSP00000497767.1:p.Leu224Pro
ENST00000648064.1:c.671T>C	ENSP00000497990.1:p.Leu224Pro
ENST00000648758.1:c.671T>C	ENSP00000497731.1:p.Leu224Pro
ENST00000649902.1:c.671T>C	ENSP00000497216.1:p.Leu224Pro
ENST00000374855.8:c.671T>C	ENSP00000363988.4:p.Leu224Pro
ENST00000468981.3:n.198T>C
ENST00000616752.1:c.671T>C	ENSP00000481363.1:p.Leu224Pro
NM_000035.3:c.671T>C	NP_000026.2:p.Leu224Pro
NM_000035.4:c.671T>C MANE Select	NP_000026.2:p.Leu224Pro