Canonical Allele Identifier: CA358147148

Gene: INTU

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127687706C>T , CM000666.2:g.127687706C>T	GRCh38
NC_000004.11:g.128608861C>T , CM000666.1:g.128608861C>T	GRCh37
NC_000004.10:g.128828311C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335251.11:c.1288C>T MANE Select	ENSP00000334003.5:p.Arg430Cys
ENST00000335251.10:c.1288C>T	ENSP00000334003.5:p.Arg430Cys
ENST00000503626.5:c.*2555C>T	ENSP00000426287.1:n.*2555C>T
ENST00000503952.5:c.*80-35C>T	ENSP00000421995.1:n.*80-35C>T
NM_015693.3:c.1288C>T	NP_056508.2:p.Arg430Cys
XM_011531844.1:c.1285C>T	XP_011530146.1:p.Arg429Cys
XM_011531845.1:c.1288C>T	XP_011530147.1:p.Arg430Cys
XM_011531846.1:c.1231C>T	XP_011530148.1:p.Arg411Cys
XM_011531847.1:c.292C>T	XP_011530149.1:p.Arg98Cys
XM_011531848.1:c.82C>T	XP_011530150.1:p.Arg28Cys
XM_011531849.1:c.1288C>T	XP_011530151.1:p.Arg430Cys
XM_011531850.1:c.1288C>T	XP_011530152.1:p.Arg430Cys
XM_011531851.1:c.1288C>T	XP_011530153.1:p.Arg430Cys
XR_938720.1:n.1391C>T
XM_011531844.3:c.1285C>T	XP_011530146.1:p.Arg429Cys
XM_011531845.3:c.1288C>T	XP_011530147.1:p.Arg430Cys
XM_011531848.2:c.82C>T	XP_011530150.1:p.Arg28Cys
XM_011531849.3:c.1288C>T	XP_011530151.1:p.Arg430Cys
XM_011531850.3:c.1288C>T	XP_011530152.1:p.Arg430Cys
XM_011531851.3:c.1288C>T	XP_011530153.1:p.Arg430Cys
XM_017008025.1:c.292C>T	XP_016863514.1:p.Arg98Cys
XM_017008026.2:c.1288C>T	XP_016863515.1:p.Arg430Cys
XR_001741201.1:n.1363C>T
NM_015693.4:c.1288C>T MANE Select	NP_056508.2:p.Arg430Cys