Canonical Allele Identifier: CA417718370

Gene: RAD54L

Linked Data

• ClinVar Variation Id: 1783028
• ClinVar RCV Id: RCV004060948
• dbSNP Id: rs1187652427
• gnomAD v2: 1-46715774-C-T
• gnomAD v3: 1-46250102-C-T
• gnomAD v4: 1-46250102-C-T
• MyVariant Identifiers: chr1:g.46715774C>T (hg19) ; chr1:g.46250102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250102C>T , CM000663.2:g.46250102C>T	GRCh38
NC_000001.10:g.46715774C>T , CM000663.1:g.46715774C>T	GRCh37
NC_000001.9:g.46488361C>T	NCBI36
NG_012144.1:g.7408C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.193C>T MANE Select	ENSP00000361043.4:p.Leu65=
ENST00000469835.6:c.193C>T	ENSP00000477172.2:p.Leu65=
ENST00000655446.1:c.193C>T	ENSP00000499451.1:p.Leu65=
ENST00000657122.1:c.*95C>T	ENSP00000499519.1:n.*95C>T
ENST00000669994.1:c.193C>T	ENSP00000499311.1:p.Leu65=
ENST00000671528.1:c.193C>T	ENSP00000499652.1:p.Leu65=
ENST00000371975.8:c.193C>T	ENSP00000361043.4:p.Leu65=
ENST00000442598.5:c.193C>T	ENSP00000396113.1:p.Leu65=
ENST00000463715.5:c.-380C>T	ENSP00000480207.1:n.-380C>T
ENST00000469835.5:c.193C>T	ENSP00000477172.1:p.Leu65=
ENST00000487700.1:n.190C>T
ENST00000493032.5:c.-212C>T	ENSP00000479995.1:n.-212C>T
ENST00000493985.5:c.-348C>T	ENSP00000479823.1:n.-348C>T
NM_001142548.1:c.193C>T	NP_001136020.1:p.Leu65=
NM_003579.3:c.193C>T	NP_003570.2:p.Leu65=
XM_006710975.2:c.-348C>T	XP_006711038.1:n.-348C>T
XM_006710975.3:c.-348C>T	XP_006711038.1:n.-348C>T
NM_003579.4:c.193C>T MANE Select	NP_003570.2:p.Leu65=
NM_001370766.1:c.-348C>T	NP_001357695.1:n.-348C>T
NM_001142548.2:c.193C>T	NP_001136020.1:p.Leu65=