Canonical Allele Identifier: CA2354580

Linked Data

ClinVar Variation Id: 992556
ClinVar RCV Id: RCV001281053
dbSNP Id: rs142829420
gnomAD v2: 3-46414580-A-T
gnomAD v3: 3-46373089-A-T
gnomAD v4: 3-46373089-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373089A>T , CM000665.2:g.46373089A>T GRCh38
NC_000003.11:g.46414580A>T , CM000665.1:g.46414580A>T GRCh37
NC_000003.10:g.46389584A>T NCBI36
NG_012637.1:g.7948A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.187A>T (CCR5) MANE Select ENSP00000292303.4:p.Ser63Cys
ENST00000292303.4:c.187A>T (CCR5) ENSP00000292303.4:p.Ser63Cys
ENST00000445772.1:c.187A>T (CCR5) ENSP00000404881.1:p.Ser63Cys
NM_000579.3:c.187A>T (CCR5) NP_000570.1:p.Ser63Cys
NM_001100168.1:c.187A>T (CCR5) NP_001093638.1:p.Ser63Cys
NR_125406.1:n.392-1672T>A (CCR5AS)
NM_000579.4:c.187A>T (CCR5) NP_000570.1:p.Ser63Cys
NM_001100168.2:c.187A>T (CCR5) NP_001093638.1:p.Ser63Cys
NM_001394783.1:c.187A>T (CCR5) MANE Select NP_001381712.1:p.Ser63Cys