Canonical Allele Identifier: CA857728245
Community Standard Title: NM_000035.4(ALDOB):c.*516T>A
Gene: ALDOB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101421293A>T , CM000671.2:g.101421293A>T GRCh38
NC_000009.11:g.104183575A>T , CM000671.1:g.104183575A>T GRCh37
NC_000009.10:g.103223396A>T NCBI36
NG_012387.1:g.19488T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000035.4:c.*516T>A MANE Select NP_000026.2:n.*516T>A
ENST00000647789.2:c.*516T>A MANE Select ENSP00000497767.1:n.*516T>A
NM_000035.3:c.*516T>A NP_000026.2:n.*516T>A
ENST00000374855.8:c.*516T>A ENSP00000363988.4:n.*516T>A
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