Canonical Allele Identifier: CA6478761

Gene: RECQL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21473616T>C , CM000674.2:g.21473616T>C	GRCh38
NC_000012.11:g.21626550T>C , CM000674.1:g.21626550T>C	GRCh37
NC_000012.10:g.21517817T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002907.4:c.1382A>G MANE Select	NP_002898.2:p.His461Arg
ENST00000444129.7:c.1382A>G MANE Select	ENSP00000416739.2:p.His461Arg
NM_002907.3:c.1382A>G	NP_002898.2:p.His461Arg
NM_032941.2:c.1382A>G	NP_116559.1:p.His461Arg
NM_032941.3:c.1382A>G	NP_116559.1:p.His461Arg
ENST00000421138.6:c.1382A>G	ENSP00000395449.2:p.His461Arg
ENST00000444129.6:c.1382A>G	ENSP00000416739.2:p.His461Arg
XM_005253461.3:c.1382A>G	XP_005253518.1:p.His461Arg
XM_005253462.3:c.1382A>G	XP_005253519.1:p.His461Arg
XM_005253462.5:c.1382A>G	XP_005253519.1:p.His461Arg
XM_005253463.2:c.1382A>G	XP_005253520.1:p.His461Arg
XM_005253463.4:c.1382A>G	XP_005253520.1:p.His461Arg
XM_005253464.2:c.1382A>G	XP_005253521.1:p.His461Arg
XM_005253464.4:c.1382A>G	XP_005253521.1:p.His461Arg
XM_006719133.2:c.1382A>G	XP_006719196.1:p.His461Arg
XM_011520811.1:c.1382A>G	XP_011519113.1:p.His461Arg