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Canonical Allele Identifier:
CA375685796
Gene: ABO
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chr9:g.133256089C>A
GRCh37
chr9:g.136131476C>A
Linked Data - Sequence & Population
gnomAD v4:
chr9-133256089-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256089C>A , CM000671.2:g.133256089C>A
GRCh38
NC_000009.11:g.136131476C>A , CM000671.1:g.136131476C>A
GRCh37
NC_000009.10:g.135121297C>A
NCBI36
NG_006669.1:g.21579G>T
NG_006669.2:g.24127G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.671G>T
ENST00000647353.1:n.54-4937G>T
ENST00000679909.1:c.28+19073G>T
ENSP00000506089.1:n.28+19073G>T
ENST00000453660.3:n.653G>T
ENST00000538324.2:c.639G>T
ENSP00000483018.1:p.Met213Ile
ENST00000611156.4:c.639G>T
ENSP00000483265.1:p.Met213Ile
NM_020469.2:c.642G>T
NP_065202.2:p.Met214Ile
NM_020469.3:c.642G>T
NP_065202.2:p.Met214Ile
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