Canonical Allele Identifier: CA834162

Gene: RAD54L

Linked Data

• dbSNP Id: rs775406174
• ExAC: 1:46715784 G / C
• gnomAD v2: 1-46715784-G-C
• gnomAD v3: 1-46250112-G-C
• gnomAD v4: 1-46250112-G-C
• MyVariant Identifiers: chr1:g.46715784G>C (hg19) ; chr1:g.46250112G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250112G>C , CM000663.2:g.46250112G>C	GRCh38
NC_000001.10:g.46715784G>C , CM000663.1:g.46715784G>C	GRCh37
NC_000001.9:g.46488371G>C	NCBI36
NG_012144.1:g.7418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.203G>C MANE Select	ENSP00000361043.4:p.Ser68Thr
ENST00000469835.6:c.203G>C	ENSP00000477172.2:p.Ser68Thr
ENST00000655446.1:c.203G>C	ENSP00000499451.1:p.Ser68Thr
ENST00000657122.1:c.*105G>C	ENSP00000499519.1:n.*105G>C
ENST00000669994.1:c.203G>C	ENSP00000499311.1:p.Ser68Thr
ENST00000671528.1:c.203G>C	ENSP00000499652.1:p.Ser68Thr
ENST00000371975.8:c.203G>C	ENSP00000361043.4:p.Ser68Thr
ENST00000442598.5:c.203G>C	ENSP00000396113.1:p.Ser68Thr
ENST00000463715.5:c.-370G>C	ENSP00000480207.1:n.-370G>C
ENST00000469835.5:c.203G>C	ENSP00000477172.1:p.Ser68Thr
ENST00000487700.1:n.200G>C
ENST00000493032.5:c.-202G>C	ENSP00000479995.1:n.-202G>C
ENST00000493985.5:c.-338G>C	ENSP00000479823.1:n.-338G>C
NM_001142548.1:c.203G>C	NP_001136020.1:p.Ser68Thr
NM_003579.3:c.203G>C	NP_003570.2:p.Ser68Thr
XM_006710975.2:c.-338G>C	XP_006711038.1:n.-338G>C
XM_006710975.3:c.-338G>C	XP_006711038.1:n.-338G>C
NM_003579.4:c.203G>C MANE Select	NP_003570.2:p.Ser68Thr
NM_001370766.1:c.-338G>C	NP_001357695.1:n.-338G>C
NM_001142548.2:c.203G>C	NP_001136020.1:p.Ser68Thr