Canonical Allele Identifier: CA196957990

Gene: ALDOB

Linked Data

• dbSNP Id: rs527985839
• gnomAD v2: 9-104191960-G-A
• gnomAD v3: 9-101429678-G-A
• gnomAD v4: 9-101429678-G-A
• MyVariant Identifiers: chr9:g.104191960G>A (hg19) ; chr9:g.101429678G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101429678G>A , CM000671.2:g.101429678G>A	GRCh38
NC_000009.11:g.104191960G>A , CM000671.1:g.104191960G>A	GRCh37
NC_000009.10:g.103231781G>A	NCBI36
NG_012387.1:g.11103C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647789.2:c.324+77C>T MANE Select	ENSP00000497767.1:n.324+77C>T
ENST00000648064.1:c.324+77C>T	ENSP00000497990.1:n.324+77C>T
ENST00000648758.1:c.324+77C>T	ENSP00000497731.1:n.324+77C>T
ENST00000648906.1:n.571C>T
ENST00000649902.1:c.324+77C>T	ENSP00000497216.1:n.324+77C>T
ENST00000650613.1:n.477C>T
ENST00000374855.8:c.324+77C>T	ENSP00000363988.4:n.324+77C>T
ENST00000468981.3:n.67+131C>T
ENST00000616752.1:c.324+77C>T	ENSP00000481363.1:n.324+77C>T
NM_000035.3:c.324+77C>T	NP_000026.2:n.324+77C>T
NM_000035.4:c.324+77C>T MANE Select	NP_000026.2:n.324+77C>T