Canonical Allele Identifier: CA2354628

Linked Data

dbSNP Id: rs757171495
gnomAD v2: 3-46414752-T-C
gnomAD v3: 3-46373261-T-C
gnomAD v4: 3-46373261-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373261T>C , CM000665.2:g.46373261T>C GRCh38
NC_000003.11:g.46414752T>C , CM000665.1:g.46414752T>C GRCh37
NC_000003.10:g.46389756T>C NCBI36
NG_012637.1:g.8120T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.359T>C (CCR5) MANE Select ENSP00000292303.4:p.Ile120Thr
ENST00000292303.4:c.359T>C (CCR5) ENSP00000292303.4:p.Ile120Thr
ENST00000445772.1:c.359T>C (CCR5) ENSP00000404881.1:p.Ile120Thr
NM_000579.3:c.359T>C (CCR5) NP_000570.1:p.Ile120Thr
NM_001100168.1:c.359T>C (CCR5) NP_001093638.1:p.Ile120Thr
NR_125406.1:n.392-1844A>G (CCR5AS)
NM_000579.4:c.359T>C (CCR5) NP_000570.1:p.Ile120Thr
NM_001100168.2:c.359T>C (CCR5) NP_001093638.1:p.Ile120Thr
NM_001394783.1:c.359T>C (CCR5) MANE Select NP_001381712.1:p.Ile120Thr