Canonical Allele Identifier: CA3075351

Gene: INTU

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127711070C>T , CM000666.2:g.127711070C>T	GRCh38
NC_000004.11:g.128632225C>T , CM000666.1:g.128632225C>T	GRCh37
NC_000004.10:g.128851675C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015693.4:c.2527C>T MANE Select	NP_056508.2:p.Arg843Cys
ENST00000335251.11:c.2527C>T MANE Select	ENSP00000334003.5:p.Arg843Cys
NM_015693.3:c.2527C>T	NP_056508.2:p.Arg843Cys
ENST00000335251.10:c.2527C>T	ENSP00000334003.5:p.Arg843Cys
ENST00000503626.5:c.*3794C>T	ENSP00000426287.1:n.*3794C>T
ENST00000503952.5:c.*1284C>T	ENSP00000421995.1:n.*1284C>T
ENST00000510766.1:c.264+2402C>T
XM_011531844.1:c.2524C>T	XP_011530146.1:p.Arg842Cys
XM_011531844.3:c.2524C>T	XP_011530146.1:p.Arg842Cys
XM_011531845.1:c.2473C>T	XP_011530147.1:p.Arg825Cys
XM_011531845.3:c.2473C>T	XP_011530147.1:p.Arg825Cys
XM_011531846.1:c.2470C>T	XP_011530148.1:p.Arg824Cys
XM_011531847.1:c.1531C>T	XP_011530149.1:p.Arg511Cys
XM_011531848.1:c.1321C>T	XP_011530150.1:p.Arg441Cys
XM_011531848.2:c.1321C>T	XP_011530150.1:p.Arg441Cys
XM_017008025.1:c.1531C>T	XP_016863514.1:p.Arg511Cys
XR_001741201.1:n.3422C>T