Canonical Allele Identifier: CA5305806

Gene: ABO

Linked Data

• dbSNP Id: rs782121240
• ExAC: 9:136131562 T / C
• gnomAD v2: 9-136131562-T-C
• gnomAD v4: 9-133256175-T-C
• MyVariant Identifiers: chr9:g.136131562T>C (hg19) ; chr9:g.133256175T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256175T>C , CM000671.2:g.133256175T>C	GRCh38
NC_000009.11:g.136131562T>C , CM000671.1:g.136131562T>C	GRCh37
NC_000009.10:g.135121383T>C	NCBI36
NG_006669.1:g.21493A>G
NG_006669.2:g.24041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.585A>G
ENST00000647353.1:n.54-5023A>G
ENST00000651471.1:n.511A>G
ENST00000679909.1:c.28+18987A>G	ENSP00000506089.1:n.28+18987A>G
ENST00000453660.3:n.567A>G
ENST00000538324.2:c.553A>G	ENSP00000483018.1:p.Met185Val
ENST00000611156.4:c.553A>G	ENSP00000483265.1:p.Met185Val
NM_020469.2:c.556A>G	NP_065202.2:p.Met186Val
NM_020469.3:c.556A>G	NP_065202.2:p.Met186Val