Canonical Allele Identifier: CA375684189
Gene: ABO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255815G>T , CM000671.2:g.133255815G>T GRCh38
NC_000009.11:g.136131202G>T , CM000671.1:g.136131202G>T GRCh37
NC_000009.10:g.135121023G>T NCBI36
NG_006669.1:g.21853C>A
NG_006669.2:g.24401C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.945C>A
ENST00000647353.1:n.54-4663C>A
ENST00000679909.1:c.28+19347C>A ENSP00000506089.1:n.28+19347C>A
ENST00000453660.3:n.927C>A
ENST00000538324.2:c.913C>A ENSP00000483018.1:p.Leu305Met
ENST00000611156.4:c.913C>A ENSP00000483265.1:p.Leu305Met
NM_020469.2:c.916C>A NP_065202.2:p.Leu306Met
NM_020469.3:c.916C>A NP_065202.2:p.Leu306Met