Canonical Allele Identifier: CA340176337
Gene: RAD54L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.46250091A>C , CM000663.2:g.46250091A>C GRCh38
NC_000001.10:g.46715763A>C , CM000663.1:g.46715763A>C GRCh37
NC_000001.9:g.46488350A>C NCBI36
NG_012144.1:g.7397A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371975.9:c.182A>C MANE Select ENSP00000361043.4:p.Gln61Pro
ENST00000469835.6:c.182A>C ENSP00000477172.2:p.Gln61Pro
ENST00000655446.1:c.182A>C ENSP00000499451.1:p.Gln61Pro
ENST00000657122.1:c.*84A>C ENSP00000499519.1:n.*84A>C
ENST00000669994.1:c.182A>C ENSP00000499311.1:p.Gln61Pro
ENST00000671528.1:c.182A>C ENSP00000499652.1:p.Gln61Pro
ENST00000371975.8:c.182A>C ENSP00000361043.4:p.Gln61Pro
ENST00000442598.5:c.182A>C ENSP00000396113.1:p.Gln61Pro
ENST00000463715.5:c.-391A>C ENSP00000480207.1:n.-391A>C
ENST00000469835.5:c.182A>C ENSP00000477172.1:p.Gln61Pro
ENST00000487700.1:n.179A>C
ENST00000493032.5:c.-223A>C ENSP00000479995.1:n.-223A>C
ENST00000493985.5:c.-359A>C ENSP00000479823.1:n.-359A>C
NM_001142548.1:c.182A>C NP_001136020.1:p.Gln61Pro
NM_003579.3:c.182A>C NP_003570.2:p.Gln61Pro
XM_006710975.2:c.-359A>C XP_006711038.1:n.-359A>C
XM_006710975.3:c.-359A>C XP_006711038.1:n.-359A>C
NM_003579.4:c.182A>C MANE Select NP_003570.2:p.Gln61Pro
NM_001370766.1:c.-359A>C NP_001357695.1:n.-359A>C
NM_001142548.2:c.182A>C NP_001136020.1:p.Gln61Pro