Canonical Allele Identifier: CA375686140
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256181C>A , CM000671.2:g.133256181C>A GRCh38
NC_000009.11:g.136131568C>A , CM000671.1:g.136131568C>A GRCh37
NC_000009.10:g.135121389C>A NCBI36
NG_006669.1:g.21487G>T
NG_006669.2:g.24035G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.579G>T
ENST00000647353.1:n.54-5029G>T
ENST00000651471.1:n.505G>T
ENST00000679909.1:c.28+18981G>T ENSP00000506089.1:n.28+18981G>T
ENST00000453660.3:n.561G>T
ENST00000538324.2:c.547G>T ENSP00000483018.1:p.Val183Leu
ENST00000611156.4:c.547G>T ENSP00000483265.1:p.Val183Leu
NM_020469.2:c.550G>T NP_065202.2:p.Val184Leu
NM_020469.3:c.550G>T NP_065202.2:p.Val184Leu