Canonical Allele Identifier: CA2692330487
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133257263-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133257263C>T , CM000671.2:g.133257263C>T GRCh38
NC_000009.11:g.136132650C>T , CM000671.1:g.136132650C>T GRCh37
NC_000009.10:g.135122471C>T NCBI36
NG_006669.1:g.20405G>A
NG_006669.2:g.22953G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.403+146G>A
ENST00000647353.1:n.54-6111G>A
ENST00000651471.1:n.329+779G>A
ENST00000679909.1:c.28+17899G>A ENSP00000506089.1:n.28+17899G>A
ENST00000453660.3:n.385+146G>A
ENST00000538324.2:c.371+146G>A ENSP00000483018.1:n.371+146G>A
ENST00000611156.4:c.371+146G>A ENSP00000483265.1:n.371+146G>A
NM_020469.2:c.374+146G>A NP_065202.2:n.374+146G>A
NM_020469.3:c.374+146G>A NP_065202.2:n.374+146G>A
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