Canonical Allele Identifier: CA340175779

Gene: RAD54L

Linked Data

• MyVariant Identifiers: chr1:g.46715713G>C (hg19) ; chr1:g.46250041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250041G>C , CM000663.2:g.46250041G>C	GRCh38
NC_000001.10:g.46715713G>C , CM000663.1:g.46715713G>C	GRCh37
NC_000001.9:g.46488300G>C	NCBI36
NG_012144.1:g.7347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.132G>C MANE Select	ENSP00000361043.4:p.Gln44His
ENST00000469835.6:c.132G>C	ENSP00000477172.2:p.Gln44His
ENST00000655446.1:c.132G>C	ENSP00000499451.1:p.Gln44His
ENST00000657122.1:c.*34G>C	ENSP00000499519.1:n.*34G>C
ENST00000669994.1:c.132G>C	ENSP00000499311.1:p.Gln44His
ENST00000671528.1:c.132G>C	ENSP00000499652.1:p.Gln44His
ENST00000371975.8:c.132G>C	ENSP00000361043.4:p.Gln44His
ENST00000442598.5:c.132G>C	ENSP00000396113.1:p.Gln44His
ENST00000463715.5:c.-441G>C	ENSP00000480207.1:n.-441G>C
ENST00000469835.5:c.132G>C	ENSP00000477172.1:p.Gln44His
ENST00000487700.1:n.129G>C
ENST00000493032.5:c.-273G>C	ENSP00000479995.1:n.-273G>C
ENST00000493985.5:c.-409G>C	ENSP00000479823.1:n.-409G>C
NM_001142548.1:c.132G>C	NP_001136020.1:p.Gln44His
NM_003579.3:c.132G>C	NP_003570.2:p.Gln44His
XM_006710975.2:c.-409G>C	XP_006711038.1:n.-409G>C
XM_006710975.3:c.-409G>C	XP_006711038.1:n.-409G>C
NM_003579.4:c.132G>C MANE Select	NP_003570.2:p.Gln44His
NM_001370766.1:c.-409G>C	NP_001357695.1:n.-409G>C
NM_001142548.2:c.132G>C	NP_001136020.1:p.Gln44His