Canonical Allele Identifier: CA2354641

Linked Data

dbSNP Id: rs541069027
gnomAD v2: 3-46414781-G-A
gnomAD v3: 3-46373290-G-A
gnomAD v4: 3-46373290-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373290G>A , CM000665.2:g.46373290G>A GRCh38
NC_000003.11:g.46414781G>A , CM000665.1:g.46414781G>A GRCh37
NC_000003.10:g.46389785G>A NCBI36
NG_012637.1:g.8149G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000292303.5:c.388G>A (CCR5) MANE Select ENSP00000292303.4:p.Val130Ile
ENST00000292303.4:c.388G>A (CCR5) ENSP00000292303.4:p.Val130Ile
ENST00000445772.1:c.388G>A (CCR5) ENSP00000404881.1:p.Val130Ile
NM_000579.3:c.388G>A (CCR5) NP_000570.1:p.Val130Ile
NM_001100168.1:c.388G>A (CCR5) NP_001093638.1:p.Val130Ile
NR_125406.1:n.392-1873C>T (CCR5AS)
NM_000579.4:c.388G>A (CCR5) NP_000570.1:p.Val130Ile
NM_001100168.2:c.388G>A (CCR5) NP_001093638.1:p.Val130Ile
NM_001394783.1:c.388G>A (CCR5) MANE Select NP_001381712.1:p.Val130Ile