Canonical Allele Identifier: CA3075153

Gene: INTU

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127705652G>A , CM000666.2:g.127705652G>A	GRCh38
NC_000004.11:g.128626807G>A , CM000666.1:g.128626807G>A	GRCh37
NC_000004.10:g.128846257G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335251.11:c.1628G>A MANE Select	ENSP00000334003.5:p.Arg543His
ENST00000335251.10:c.1628G>A	ENSP00000334003.5:p.Arg543His
ENST00000503626.5:c.*2895G>A	ENSP00000426287.1:n.*2895G>A
ENST00000503952.5:c.*385G>A	ENSP00000421995.1:n.*385G>A
ENST00000506283.1:c.170G>A	ENSP00000426171.1:p.Arg57His
ENST00000512995.1:n.297G>A
NM_015693.3:c.1628G>A	NP_056508.2:p.Arg543His
XM_011531844.1:c.1625G>A	XP_011530146.1:p.Arg542His
XM_011531845.1:c.1574G>A	XP_011530147.1:p.Arg525His
XM_011531846.1:c.1571G>A	XP_011530148.1:p.Arg524His
XM_011531847.1:c.632G>A	XP_011530149.1:p.Arg211His
XM_011531848.1:c.422G>A	XP_011530150.1:p.Arg141His
XM_011531849.1:c.1567-24G>A	XP_011530151.1:n.1567-24G>A
XM_011531850.1:c.1513-24G>A	XP_011530152.1:n.1513-24G>A
XM_011531844.3:c.1625G>A	XP_011530146.1:p.Arg542His
XM_011531845.3:c.1574G>A	XP_011530147.1:p.Arg525His
XM_011531848.2:c.422G>A	XP_011530150.1:p.Arg141His
XM_011531849.3:c.1567-24G>A	XP_011530151.1:n.1567-24G>A
XM_011531850.3:c.1513-24G>A	XP_011530152.1:n.1513-24G>A
XM_017008025.1:c.632G>A	XP_016863514.1:p.Arg211His
XR_001741201.1:n.2523G>A
NM_015693.4:c.1628G>A MANE Select	NP_056508.2:p.Arg543His