Canonical Allele Identifier: CA375686395
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133256307T>A , CM000671.2:g.133256307T>A GRCh38
NC_000009.11:g.136131694T>A , CM000671.1:g.136131694T>A GRCh37
NC_000009.10:g.135121515T>A NCBI36
NG_006669.1:g.21361A>T
NG_006669.2:g.23909A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.453A>T
ENST00000647353.1:n.54-5155A>T
ENST00000651471.1:n.379A>T
ENST00000679909.1:c.28+18855A>T ENSP00000506089.1:n.28+18855A>T
ENST00000453660.3:n.435A>T
ENST00000538324.2:c.421A>T ENSP00000483018.1:p.Met141Leu
ENST00000611156.4:c.421A>T ENSP00000483265.1:p.Met141Leu
NM_020469.2:c.424A>T NP_065202.2:p.Met142Leu
NM_020469.3:c.424A>T NP_065202.2:p.Met142Leu