Canonical Allele Identifier: CA1826368029

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515038G= , CM000670.2:g.144515038G=	GRCh38
NC_000008.10:g.145740422G= , CM000670.1:g.145740422G=	GRCh37
NC_000008.9:g.145711230G=	NCBI36
NG_016430.1:g.7789C=
NG_033083.1:g.2074G=
NG_016430.2:g.7789C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.541C=
ENST00000617875.6:c.1518C= MANE Select	ENSP00000482313.2:p.Ala506=
ENST00000532846.2:c.373C=
ENST00000617875.4:c.1518C=	ENSP00000482313.1:p.Ala506=
ENST00000621189.4:c.447C=	ENSP00000483145.1:p.Ala149=
NM_004260.3:c.1518C=	NP_004251.3:p.Ala506=
XM_011517380.1:c.1518C=	XP_011515682.1:p.Ala506=
XM_011517381.1:c.1422C=	XP_011515683.1:p.Ala474=
XM_011517382.1:c.1518C=	XP_011515684.1:p.Ala506=
XM_011517383.1:c.1518C=	XP_011515685.1:p.Ala506=
XM_011517384.1:c.1518C=	XP_011515686.1:p.Ala506=
XM_011517385.1:c.381C=	XP_011515687.1:p.Ala127=
XR_928366.1:n.1559C=
XR_928367.1:n.1559C=
XR_928368.1:n.1561C=
XM_011517384.3:c.1518C=	XP_011515686.1:p.Ala506=
XM_017013991.2:c.1518C=	XP_016869480.1:p.Ala506=
XM_017013992.2:c.1518C=	XP_016869481.1:p.Ala506=
XM_017013993.2:c.1518C=	XP_016869482.1:p.Ala506=
XM_017013994.2:c.1422C=	XP_016869483.1:p.Ala474=
XM_017013995.2:c.1518C=	XP_016869484.1:p.Ala506=
XM_017013996.2:c.1518C=	XP_016869485.1:p.Ala506=
XM_017013997.2:c.1518C=	XP_016869486.1:p.Ala506=
XM_017013998.1:c.1518C=	XP_016869487.1:p.Ala506=
XM_017013999.2:c.1518C=	XP_016869488.1:p.Ala506=
XM_017014000.1:c.381C=	XP_016869489.1:p.Ala127=
XM_017014001.2:c.381C=	XP_016869490.1:p.Ala127=
XR_001745626.2:n.1555C=
XR_001745627.2:n.1555C=
XR_001745628.2:n.1555C=
XR_001745629.2:n.1555C=
XR_001745630.2:n.1555C=
NM_004260.4:c.1518C= MANE Select	NP_004251.4:p.Ala506=