Canonical Allele Identifier: CA374266321
Community Standard Title: NM_000035.4(ALDOB):c.2T>C (p.Met1Thr)
Gene: ALDOB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101430886A>G , CM000671.2:g.101430886A>G GRCh38
NC_000009.11:g.104193168A>G , CM000671.1:g.104193168A>G GRCh37
NC_000009.10:g.103232989A>G NCBI36
NG_012387.1:g.9895T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000035.4:c.2T>C MANE Select NP_000026.2:p.Met1Thr
ENST00000647789.2:c.2T>C MANE Select ENSP00000497767.1:p.Met1Thr
NM_000035.3:c.2T>C NP_000026.2:p.Met1Thr
ENST00000374855.8:c.2T>C ENSP00000363988.4:p.Met1Thr
ENST00000616752.1:c.2T>C ENSP00000481363.1:p.Met1Thr
ENST00000648064.1:c.2T>C ENSP00000497990.1:p.Met1Thr
ENST00000648423.1:c.2T>C ENSP00000497985.1:p.Met1Thr
ENST00000648758.1:c.2T>C ENSP00000497731.1:p.Met1Thr
ENST00000648906.1:n.172T>C
ENST00000649902.1:c.2T>C ENSP00000497216.1:p.Met1Thr
ENST00000650613.1:n.78T>C