Canonical Allele Identifier: CA118056
Gene: RAD54L HGNC NCBI

Linked Data

ClinVar Variation Id: 6191
ClinVar RCV Id: RCV000006568
dbSNP Id: rs121908688
ExAC: 1:46715769 C / A
gnomAD v2: 1-46715769-C-A
gnomAD v4: 1-46250097-C-A
MyVariant Identifiers: chr1:g.46715769C>A (hg19) chr1:g.46250097C>A (hg38)
PubMed: PMID:10362365
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46250097C>A , CM000663.2:g.46250097C>A GRCh38
NC_000001.10:g.46715769C>A , CM000663.1:g.46715769C>A GRCh37
NC_000001.9:g.46488356C>A NCBI36
NG_012144.1:g.7403C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371975.9:c.188C>A MANE Select ENSP00000361043.4:p.Pro63His
ENST00000469835.6:c.188C>A ENSP00000477172.2:p.Pro63His
ENST00000655446.1:c.188C>A ENSP00000499451.1:p.Pro63His
ENST00000657122.1:c.*90C>A ENSP00000499519.1:n.*90C>A
ENST00000669994.1:c.188C>A ENSP00000499311.1:p.Pro63His
ENST00000671528.1:c.188C>A ENSP00000499652.1:p.Pro63His
ENST00000371975.8:c.188C>A ENSP00000361043.4:p.Pro63His
ENST00000442598.5:c.188C>A ENSP00000396113.1:p.Pro63His
ENST00000463715.5:c.-385C>A ENSP00000480207.1:n.-385C>A
ENST00000469835.5:c.188C>A ENSP00000477172.1:p.Pro63His
ENST00000487700.1:n.185C>A
ENST00000493032.5:c.-217C>A ENSP00000479995.1:n.-217C>A
ENST00000493985.5:c.-353C>A ENSP00000479823.1:n.-353C>A
NM_001142548.1:c.188C>A NP_001136020.1:p.Pro63His
NM_003579.3:c.188C>A NP_003570.2:p.Pro63His
XM_006710975.2:c.-353C>A XP_006711038.1:n.-353C>A
XM_006710975.3:c.-353C>A XP_006711038.1:n.-353C>A
NM_003579.4:c.188C>A MANE Select NP_003570.2:p.Pro63His
NM_001370766.1:c.-353C>A NP_001357695.1:n.-353C>A
NM_001142548.2:c.188C>A NP_001136020.1:p.Pro63His
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