Canonical Allele Identifier: CA358142221

Gene: INTU

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127669126G>C , CM000666.2:g.127669126G>C	GRCh38
NC_000004.11:g.128590281G>C , CM000666.1:g.128590281G>C	GRCh37
NC_000004.10:g.128809731G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000335251.11:c.1063G>C MANE Select	ENSP00000334003.5:p.Glu355Gln
ENST00000335251.10:c.1063G>C	ENSP00000334003.5:p.Glu355Gln
ENST00000503626.5:c.1063G>C	ENSP00000426287.1:p.Glu355Gln
ENST00000503952.5:c.1063G>C	ENSP00000421995.1:p.Glu355Gln
NM_015693.3:c.1063G>C	NP_056508.2:p.Glu355Gln
XM_011531844.1:c.1060G>C	XP_011530146.1:p.Glu354Gln
XM_011531845.1:c.1063G>C	XP_011530147.1:p.Glu355Gln
XM_011531846.1:c.1006G>C	XP_011530148.1:p.Glu336Gln
XM_011531847.1:c.67G>C	XP_011530149.1:p.Glu23Gln
XM_011531849.1:c.1063G>C	XP_011530151.1:p.Glu355Gln
XM_011531850.1:c.1063G>C	XP_011530152.1:p.Glu355Gln
XM_011531851.1:c.1063G>C	XP_011530153.1:p.Glu355Gln
XR_938720.1:n.1166G>C
XM_011531844.3:c.1060G>C	XP_011530146.1:p.Glu354Gln
XM_011531845.3:c.1063G>C	XP_011530147.1:p.Glu355Gln
XM_011531849.3:c.1063G>C	XP_011530151.1:p.Glu355Gln
XM_011531850.3:c.1063G>C	XP_011530152.1:p.Glu355Gln
XM_011531851.3:c.1063G>C	XP_011530153.1:p.Glu355Gln
XM_017008025.1:c.67G>C	XP_016863514.1:p.Glu23Gln
XM_017008026.2:c.1063G>C	XP_016863515.1:p.Glu355Gln
XR_001741201.1:n.1138G>C
NM_015693.4:c.1063G>C MANE Select	NP_056508.2:p.Glu355Gln