Canonical Allele Identifier: CA5305675

Gene: ABO

Linked Data

• dbSNP Id: rs782150607
• ExAC: 9:136131157 G / T
• gnomAD v2: 9-136131157-G-T
• gnomAD v3: 9-133255770-G-T
• gnomAD v4: 9-133255770-G-T
• MyVariant Identifiers: chr9:g.136131157G>T (hg19) ; chr9:g.133255770G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255770G>T , CM000671.2:g.133255770G>T	GRCh38
NC_000009.11:g.136131157G>T , CM000671.1:g.136131157G>T	GRCh37
NC_000009.10:g.135120978G>T	NCBI36
NG_006669.1:g.21898C>A
NG_006669.2:g.24446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.990C>A
ENST00000647353.1:n.54-4618C>A
ENST00000679909.1:c.28+19392C>A	ENSP00000506089.1:n.28+19392C>A
ENST00000453660.3:n.972C>A
ENST00000538324.2:c.958C>A	ENSP00000483018.1:p.Pro320Thr
ENST00000611156.4:c.958C>A	ENSP00000483265.1:p.Pro320Thr
NM_020469.2:c.961C>A	NP_065202.2:p.Pro321Thr
NM_020469.3:c.961C>A	NP_065202.2:p.Pro321Thr