Canonical Allele Identifier: CA196958379
Community Standard Title: NM_000035.4(ALDOB):c.60C>T (p.Ala20=)
Gene: ALDOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101430828G>A , CM000671.2:g.101430828G>A GRCh38
NC_000009.11:g.104193110G>A , CM000671.1:g.104193110G>A GRCh37
NC_000009.10:g.103232931G>A NCBI36
NG_012387.1:g.9953C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000035.4:c.60C>T MANE Select NP_000026.2:p.Ala20=
ENST00000647789.2:c.60C>T MANE Select ENSP00000497767.1:p.Ala20=
NM_000035.3:c.60C>T NP_000026.2:p.Ala20=
ENST00000374855.8:c.60C>T ENSP00000363988.4:p.Ala20=
ENST00000616752.1:c.60C>T ENSP00000481363.1:p.Ala20=
ENST00000648064.1:c.60C>T ENSP00000497990.1:p.Ala20=
ENST00000648423.1:c.60C>T ENSP00000497985.1:p.Ala20=
ENST00000648758.1:c.60C>T ENSP00000497731.1:p.Ala20=
ENST00000648906.1:n.230C>T
ENST00000649902.1:c.60C>T ENSP00000497216.1:p.Ala20=
ENST00000650613.1:n.136C>T