Canonical Allele Identifier: CA6478980

Gene: RECQL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21477928C>T , CM000674.2:g.21477928C>T	GRCh38
NC_000012.11:g.21630862C>T , CM000674.1:g.21630862C>T	GRCh37
NC_000012.10:g.21522129C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002907.4:c.742G>A MANE Select	NP_002898.2:p.Ala248Thr
ENST00000444129.7:c.742G>A MANE Select	ENSP00000416739.2:p.Ala248Thr
NM_002907.3:c.742G>A	NP_002898.2:p.Ala248Thr
NM_032941.2:c.742G>A	NP_116559.1:p.Ala248Thr
NM_032941.3:c.742G>A	NP_116559.1:p.Ala248Thr
ENST00000421138.6:c.742G>A	ENSP00000395449.2:p.Ala248Thr
ENST00000444129.6:c.742G>A	ENSP00000416739.2:p.Ala248Thr
XM_005253461.3:c.742G>A	XP_005253518.1:p.Ala248Thr
XM_005253462.3:c.742G>A	XP_005253519.1:p.Ala248Thr
XM_005253462.5:c.742G>A	XP_005253519.1:p.Ala248Thr
XM_005253463.2:c.742G>A	XP_005253520.1:p.Ala248Thr
XM_005253463.4:c.742G>A	XP_005253520.1:p.Ala248Thr
XM_005253464.2:c.742G>A	XP_005253521.1:p.Ala248Thr
XM_005253464.4:c.742G>A	XP_005253521.1:p.Ala248Thr
XM_006719133.2:c.742G>A	XP_006719196.1:p.Ala248Thr
XM_011520811.1:c.742G>A	XP_011519113.1:p.Ala248Thr