Canonical Allele Identifier: CA352471463

Linked Data

dbSNP Id: rs767604123
gnomAD v3: 3-46373415-A-T
gnomAD v4: 3-46373415-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373415A>T , CM000665.2:g.46373415A>T GRCh38
NC_000003.11:g.46414906A>T , CM000665.1:g.46414906A>T GRCh37
NC_000003.10:g.46389910A>T NCBI36
NG_012637.1:g.8274A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.513A>T (CCR5) MANE Select ENSP00000292303.4:p.Lys171Asn
ENST00000292303.4:c.513A>T (CCR5) ENSP00000292303.4:p.Lys171Asn
ENST00000445772.1:c.513A>T (CCR5) ENSP00000404881.1:p.Lys171Asn
NM_000579.3:c.513A>T (CCR5) NP_000570.1:p.Lys171Asn
NM_001100168.1:c.513A>T (CCR5) NP_001093638.1:p.Lys171Asn
NR_125406.1:n.392-1998T>A (CCR5AS)
NM_000579.4:c.513A>T (CCR5) NP_000570.1:p.Lys171Asn
NM_001100168.2:c.513A>T (CCR5) NP_001093638.1:p.Lys171Asn
NM_001394783.1:c.513A>T (CCR5) MANE Select NP_001381712.1:p.Lys171Asn