Canonical Allele Identifier: CA340175360

Gene: RAD54L

Linked Data

• ClinVar Variation Id: 3223474
• ClinVar RCV Id: RCV004508822
• gnomAD v4: 1-46250007-G-A
• MyVariant Identifiers: chr1:g.46715679G>A (hg19) ; chr1:g.46250007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250007G>A , CM000663.2:g.46250007G>A	GRCh38
NC_000001.10:g.46715679G>A , CM000663.1:g.46715679G>A	GRCh37
NC_000001.9:g.46488266G>A	NCBI36
NG_012144.1:g.7313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.98G>A MANE Select	ENSP00000361043.4:p.Arg33Lys
ENST00000469835.6:c.98G>A	ENSP00000477172.2:p.Arg33Lys
ENST00000655446.1:c.98G>A	ENSP00000499451.1:p.Arg33Lys
ENST00000657122.1:c.123G>A	ENSP00000499519.1:p.Ter41=
ENST00000668390.1:n.494G>A
ENST00000669994.1:c.98G>A	ENSP00000499311.1:p.Arg33Lys
ENST00000671528.1:c.98G>A	ENSP00000499652.1:p.Arg33Lys
ENST00000371975.8:c.98G>A	ENSP00000361043.4:p.Arg33Lys
ENST00000442598.5:c.98G>A	ENSP00000396113.1:p.Arg33Lys
ENST00000463715.5:c.-475G>A	ENSP00000480207.1:n.-475G>A
ENST00000469835.5:c.98G>A	ENSP00000477172.1:p.Arg33Lys
ENST00000487700.1:n.95G>A
ENST00000493032.5:c.-307G>A	ENSP00000479995.1:n.-307G>A
ENST00000493985.5:c.-443G>A	ENSP00000479823.1:n.-443G>A
NM_001142548.1:c.98G>A	NP_001136020.1:p.Arg33Lys
NM_003579.3:c.98G>A	NP_003570.2:p.Arg33Lys
XM_006710975.2:c.-443G>A	XP_006711038.1:n.-443G>A
XM_006710975.3:c.-443G>A	XP_006711038.1:n.-443G>A
NM_003579.4:c.98G>A MANE Select	NP_003570.2:p.Arg33Lys
NM_001370766.1:c.-443G>A	NP_001357695.1:n.-443G>A
NM_001142548.2:c.98G>A	NP_001136020.1:p.Arg33Lys