Canonical Allele Identifier: CA375685501

Gene: ABO

Linked Data

• gnomAD v4: 9-133256030-G-A
• MyVariant Identifiers: chr9:g.136131417G>A (hg19) ; chr9:g.133256030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256030G>A , CM000671.2:g.133256030G>A	GRCh38
NC_000009.11:g.136131417G>A , CM000671.1:g.136131417G>A	GRCh37
NC_000009.10:g.135121238G>A	NCBI36
NG_006669.1:g.21638C>T
NG_006669.2:g.24186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.730C>T
ENST00000647353.1:n.54-4878C>T
ENST00000679909.1:c.28+19132C>T	ENSP00000506089.1:n.28+19132C>T
ENST00000453660.3:n.712C>T
ENST00000538324.2:c.698C>T	ENSP00000483018.1:p.Pro233Leu
ENST00000611156.4:c.698C>T	ENSP00000483265.1:p.Pro233Leu
NM_020469.2:c.701C>T	NP_065202.2:p.Pro234Leu
NM_020469.3:c.701C>T	NP_065202.2:p.Pro234Leu