Canonical Allele Identifier: CA352472635

Linked Data

dbSNP Id: rs1559568547
gnomAD v3: 3-46373625-G-T
gnomAD v4: 3-46373625-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.46373625G>T , CM000665.2:g.46373625G>T GRCh38
NC_000003.11:g.46415116G>T , CM000665.1:g.46415116G>T GRCh37
NC_000003.10:g.46390120G>T NCBI36
NG_012637.1:g.8484G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292303.5:c.723G>T (CCR5) MANE Select ENSP00000292303.4:p.Met241Ile
ENST00000292303.4:c.723G>T (CCR5) ENSP00000292303.4:p.Met241Ile
ENST00000445772.1:c.723G>T (CCR5) ENSP00000404881.1:p.Met241Ile
NM_000579.3:c.723G>T (CCR5) NP_000570.1:p.Met241Ile
NM_001100168.1:c.723G>T (CCR5) NP_001093638.1:p.Met241Ile
NR_125406.1:n.392-2208C>A (CCR5AS)
NM_000579.4:c.723G>T (CCR5) NP_000570.1:p.Met241Ile
NM_001100168.2:c.723G>T (CCR5) NP_001093638.1:p.Met241Ile
NM_001394783.1:c.723G>T (CCR5) MANE Select NP_001381712.1:p.Met241Ile