Canonical Allele Identifier: CA340175589

Gene: RAD54L

Linked Data

• MyVariant Identifiers: chr1:g.46715697G>T (hg19) ; chr1:g.46250025G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.46250025G>T , CM000663.2:g.46250025G>T	GRCh38
NC_000001.10:g.46715697G>T , CM000663.1:g.46715697G>T	GRCh37
NC_000001.9:g.46488284G>T	NCBI36
NG_012144.1:g.7331G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371975.9:c.116G>T MANE Select	ENSP00000361043.4:p.Ser39Ile
ENST00000469835.6:c.116G>T	ENSP00000477172.2:p.Ser39Ile
ENST00000655446.1:c.116G>T	ENSP00000499451.1:p.Ser39Ile
ENST00000657122.1:c.*18G>T	ENSP00000499519.1:n.*18G>T
ENST00000669994.1:c.116G>T	ENSP00000499311.1:p.Ser39Ile
ENST00000671528.1:c.116G>T	ENSP00000499652.1:p.Ser39Ile
ENST00000371975.8:c.116G>T	ENSP00000361043.4:p.Ser39Ile
ENST00000442598.5:c.116G>T	ENSP00000396113.1:p.Ser39Ile
ENST00000463715.5:c.-457G>T	ENSP00000480207.1:n.-457G>T
ENST00000469835.5:c.116G>T	ENSP00000477172.1:p.Ser39Ile
ENST00000487700.1:n.113G>T
ENST00000493032.5:c.-289G>T	ENSP00000479995.1:n.-289G>T
ENST00000493985.5:c.-425G>T	ENSP00000479823.1:n.-425G>T
NM_001142548.1:c.116G>T	NP_001136020.1:p.Ser39Ile
NM_003579.3:c.116G>T	NP_003570.2:p.Ser39Ile
XM_006710975.2:c.-425G>T	XP_006711038.1:n.-425G>T
XM_006710975.3:c.-425G>T	XP_006711038.1:n.-425G>T
NM_003579.4:c.116G>T MANE Select	NP_003570.2:p.Ser39Ile
NM_001370766.1:c.-425G>T	NP_001357695.1:n.-425G>T
NM_001142548.2:c.116G>T	NP_001136020.1:p.Ser39Ile