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Canonical Allele Identifier:
CA200765576
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs563480845
gnomAD:
9:136131664 A / G
MyVariant Identifiers:
chr9:g.136131664A>G (hg19)
chr9:g.133256277A>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256277A>G , CM000671.2:g.133256277A>G
GRCh38
NC_000009.11:g.136131664A>G , CM000671.1:g.136131664A>G
GRCh37
NC_000009.10:g.135121485A>G
NCBI36
NG_006669.1:g.21391T>C
NG_006669.2:g.23939T>C
Transcript Alleles
HGVS
Amino-acid change
NM_020469.2:c.454T>C
NP_065202.2:p.Phe152Leu
NM_020469.3:c.454T>C
NP_065202.2:p.Phe152Leu
ENST00000453660.3:n.465T>C
ENST00000538324.2:c.451T>C
ENSP00000483018.1:p.Phe151Leu
ENST00000611156.4:c.451T>C
ENSP00000483265.1:p.Phe151Leu
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