Canonical Allele Identifier: CA2354631

Linked Data

dbSNP Id: rs769009812
gnomAD v2: 3-46414763-A-G
gnomAD v4: 3-46373272-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373272A>G , CM000665.2:g.46373272A>G GRCh38
NC_000003.11:g.46414763A>G , CM000665.1:g.46414763A>G GRCh37
NC_000003.10:g.46389767A>G NCBI36
NG_012637.1:g.8131A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.370A>G (CCR5) MANE Select ENSP00000292303.4:p.Ile124Val
ENST00000292303.4:c.370A>G (CCR5) ENSP00000292303.4:p.Ile124Val
ENST00000445772.1:c.370A>G (CCR5) ENSP00000404881.1:p.Ile124Val
NM_000579.3:c.370A>G (CCR5) NP_000570.1:p.Ile124Val
NM_001100168.1:c.370A>G (CCR5) NP_001093638.1:p.Ile124Val
NR_125406.1:n.392-1855T>C (CCR5AS)
NM_000579.4:c.370A>G (CCR5) NP_000570.1:p.Ile124Val
NM_001100168.2:c.370A>G (CCR5) NP_001093638.1:p.Ile124Val
NM_001394783.1:c.370A>G (CCR5) MANE Select NP_001381712.1:p.Ile124Val