Canonical Allele Identifier: CA352471632
Gene: CCR5 HGNC NCBI
CCR5AS HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.46373453A>G
GRCh37 chr3:g.46414944A>G
Revel Score:
ENST00000343801 0.026
ENST00000400886 0.026
ENST00000292303 (MANE Select) 0.026
ENST00000445772 0.026
gnomAD v2:
3:46414944 A / G
gnomAD v3:
3:46373453 A / G
gnomAD v4:
chr3-46373453-A-G
Joint Max Group AF 0.00000691 (NFE)
Genomes Max Group AF 0.00000612 (NFE)
Exomes Max Group AF 0.0000058 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373453A>G , CM000665.2:g.46373453A>G GRCh38
NC_000003.11:g.46414944A>G , CM000665.1:g.46414944A>G GRCh37
NC_000003.10:g.46389948A>G NCBI36
NG_012637.1:g.8312A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.551A>G (CCR5) MANE Select ENSP00000292303.4:p.Tyr184Cys
ENST00000292303.4:c.551A>G (CCR5) ENSP00000292303.4:p.Tyr184Cys
ENST00000445772.1:c.551A>G (CCR5) ENSP00000404881.1:p.Tyr184Cys
NM_000579.3:c.551A>G (CCR5) NP_000570.1:p.Tyr184Cys
NM_001100168.1:c.551A>G (CCR5) NP_001093638.1:p.Tyr184Cys
NR_125406.1:n.392-2036T>C (CCR5AS)
NM_000579.4:c.551A>G (CCR5) NP_000570.1:p.Tyr184Cys
NM_001100168.2:c.551A>G (CCR5) NP_001093638.1:p.Tyr184Cys
NM_001394783.1:c.551A>G (CCR5) MANE Select NP_001381712.1:p.Tyr184Cys
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