Canonical Allele Identifier: CA12995138
Gene: ALDOB HGNC NCBI

Linked Data

ClinVar Variation Id: 1231126
ClinVar RCV Id: RCV001609782
dbSNP Id: rs681
gnomAD v2: 9-104187041-A-G
gnomAD v3: 9-101424759-A-G
gnomAD v4: 9-101424759-A-G
MyVariant Identifiers: chr9:g.104187041A>G (hg19) chr9:g.101424759A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101424759A>G , CM000671.2:g.101424759A>G GRCh38
NC_000009.11:g.104187041A>G , CM000671.1:g.104187041A>G GRCh37
NC_000009.10:g.103226862A>G NCBI36
NG_012387.1:g.16022T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647789.2:c.999+84T>C MANE Select ENSP00000497767.1:n.999+84T>C
ENST00000648064.1:c.999+84T>C ENSP00000497990.1:n.999+84T>C
ENST00000648758.1:c.999+84T>C ENSP00000497731.1:n.999+84T>C
ENST00000649902.1:c.*54T>C ENSP00000497216.1:n.*54T>C
ENST00000374855.8:c.999+84T>C ENSP00000363988.4:n.999+84T>C
ENST00000616752.1:c.*11+84T>C ENSP00000481363.1:n.*11+84T>C
NM_000035.3:c.999+84T>C NP_000026.2:n.999+84T>C
NM_000035.4:c.999+84T>C MANE Select NP_000026.2:n.999+84T>C
Search 100 bp 5'
Search 100 bp 3'