Canonical Allele Identifier: CA352473566

Linked Data

dbSNP Id: rs1244960675
gnomAD v2: 3-46415385-C-A
gnomAD v4: 3-46373894-C-A
COSMIC: COSM94039

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373894C>A , CM000665.2:g.46373894C>A GRCh38
NC_000003.11:g.46415385C>A , CM000665.1:g.46415385C>A GRCh37
NC_000003.10:g.46390389C>A NCBI36
NG_012637.1:g.8753C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.992C>A (CCR5) MANE Select ENSP00000292303.4:p.Ala331Asp
ENST00000292303.4:c.992C>A (CCR5) ENSP00000292303.4:p.Ala331Asp
ENST00000445772.1:c.992C>A (CCR5) ENSP00000404881.1:p.Ala331Asp
NM_000579.3:c.992C>A (CCR5) NP_000570.1:p.Ala331Asp
NM_001100168.1:c.992C>A (CCR5) NP_001093638.1:p.Ala331Asp
NR_125406.1:n.392-2477G>T (CCR5AS)
NM_000579.4:c.992C>A (CCR5) NP_000570.1:p.Ala331Asp
NM_001100168.2:c.992C>A (CCR5) NP_001093638.1:p.Ala331Asp
NM_001394783.1:c.992C>A (CCR5) MANE Select NP_001381712.1:p.Ala331Asp