Canonical Allele Identifier: CA340176470

Gene: RAD54L

Linked Data

• dbSNP Id: rs1243463133
• gnomAD v2: 1-46715772-G-T
• gnomAD v4: 1-46250100-G-T
• MyVariant Identifiers: chr1:g.46715772G>T (hg19) ; chr1:g.46250100G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250100G>T , CM000663.2:g.46250100G>T	GRCh38
NC_000001.10:g.46715772G>T , CM000663.1:g.46715772G>T	GRCh37
NC_000001.9:g.46488359G>T	NCBI36
NG_012144.1:g.7406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.191G>T MANE Select	ENSP00000361043.4:p.Cys64Phe
ENST00000469835.6:c.191G>T	ENSP00000477172.2:p.Cys64Phe
ENST00000655446.1:c.191G>T	ENSP00000499451.1:p.Cys64Phe
ENST00000657122.1:c.*93G>T	ENSP00000499519.1:n.*93G>T
ENST00000669994.1:c.191G>T	ENSP00000499311.1:p.Cys64Phe
ENST00000671528.1:c.191G>T	ENSP00000499652.1:p.Cys64Phe
ENST00000371975.8:c.191G>T	ENSP00000361043.4:p.Cys64Phe
ENST00000442598.5:c.191G>T	ENSP00000396113.1:p.Cys64Phe
ENST00000463715.5:c.-382G>T	ENSP00000480207.1:n.-382G>T
ENST00000469835.5:c.191G>T	ENSP00000477172.1:p.Cys64Phe
ENST00000487700.1:n.188G>T
ENST00000493032.5:c.-214G>T	ENSP00000479995.1:n.-214G>T
ENST00000493985.5:c.-350G>T	ENSP00000479823.1:n.-350G>T
NM_001142548.1:c.191G>T	NP_001136020.1:p.Cys64Phe
NM_003579.3:c.191G>T	NP_003570.2:p.Cys64Phe
XM_006710975.2:c.-350G>T	XP_006711038.1:n.-350G>T
XM_006710975.3:c.-350G>T	XP_006711038.1:n.-350G>T
NM_003579.4:c.191G>T MANE Select	NP_003570.2:p.Cys64Phe
NM_001370766.1:c.-350G>T	NP_001357695.1:n.-350G>T
NM_001142548.2:c.191G>T	NP_001136020.1:p.Cys64Phe