Canonical Allele Identifier: CA340176523

Gene: RAD54L

Linked Data

• gnomAD v4: 1-46250103-T-G
• MyVariant Identifiers: chr1:g.46715775T>G (hg19) ; chr1:g.46250103T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250103T>G , CM000663.2:g.46250103T>G	GRCh38
NC_000001.10:g.46715775T>G , CM000663.1:g.46715775T>G	GRCh37
NC_000001.9:g.46488362T>G	NCBI36
NG_012144.1:g.7409T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.194T>G MANE Select	ENSP00000361043.4:p.Leu65Arg
ENST00000469835.6:c.194T>G	ENSP00000477172.2:p.Leu65Arg
ENST00000655446.1:c.194T>G	ENSP00000499451.1:p.Leu65Arg
ENST00000657122.1:c.*96T>G	ENSP00000499519.1:n.*96T>G
ENST00000669994.1:c.194T>G	ENSP00000499311.1:p.Leu65Arg
ENST00000671528.1:c.194T>G	ENSP00000499652.1:p.Leu65Arg
ENST00000371975.8:c.194T>G	ENSP00000361043.4:p.Leu65Arg
ENST00000442598.5:c.194T>G	ENSP00000396113.1:p.Leu65Arg
ENST00000463715.5:c.-379T>G	ENSP00000480207.1:n.-379T>G
ENST00000469835.5:c.194T>G	ENSP00000477172.1:p.Leu65Arg
ENST00000487700.1:n.191T>G
ENST00000493032.5:c.-211T>G	ENSP00000479995.1:n.-211T>G
ENST00000493985.5:c.-347T>G	ENSP00000479823.1:n.-347T>G
NM_001142548.1:c.194T>G	NP_001136020.1:p.Leu65Arg
NM_003579.3:c.194T>G	NP_003570.2:p.Leu65Arg
XM_006710975.2:c.-347T>G	XP_006711038.1:n.-347T>G
XM_006710975.3:c.-347T>G	XP_006711038.1:n.-347T>G
NM_003579.4:c.194T>G MANE Select	NP_003570.2:p.Leu65Arg
NM_001370766.1:c.-347T>G	NP_001357695.1:n.-347T>G
NM_001142548.2:c.194T>G	NP_001136020.1:p.Leu65Arg