Canonical Allele Identifier: CA358134059

Gene: INTU

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.127700059A>C , CM000666.2:g.127700059A>C	GRCh38
NC_000004.11:g.128621214A>C , CM000666.1:g.128621214A>C	GRCh37
NC_000004.10:g.128840664A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_015693.4:c.1499A>C MANE Select	NP_056508.2:p.Glu500Ala
ENST00000335251.11:c.1499A>C MANE Select	ENSP00000334003.5:p.Glu500Ala
NM_015693.3:c.1499A>C	NP_056508.2:p.Glu500Ala
ENST00000335251.10:c.1499A>C	ENSP00000334003.5:p.Glu500Ala
ENST00000503626.5:c.*2766A>C	ENSP00000426287.1:n.*2766A>C
ENST00000503952.5:c.*256A>C	ENSP00000421995.1:n.*256A>C
ENST00000506283.1:c.104A>C	ENSP00000426171.1:p.Glu35Ala
ENST00000512995.1:n.168A>C
XM_011531844.1:c.1496A>C	XP_011530146.1:p.Glu499Ala
XM_011531844.3:c.1496A>C	XP_011530146.1:p.Glu499Ala
XM_011531845.1:c.1450-4169A>C	XP_011530147.1:n.1450-4169A>C
XM_011531845.3:c.1450-4169A>C	XP_011530147.1:n.1450-4169A>C
XM_011531846.1:c.1442A>C	XP_011530148.1:p.Glu481Ala
XM_011531847.1:c.503A>C	XP_011530149.1:p.Glu168Ala
XM_011531848.1:c.293A>C	XP_011530150.1:p.Glu98Ala
XM_011531848.2:c.293A>C	XP_011530150.1:p.Glu98Ala
XM_011531849.1:c.1499A>C	XP_011530151.1:p.Glu500Ala
XM_011531849.3:c.1499A>C	XP_011530151.1:p.Glu500Ala
XM_011531850.1:c.1450-4169A>C	XP_011530152.1:n.1450-4169A>C
XM_011531850.3:c.1450-4169A>C	XP_011530152.1:n.1450-4169A>C
XM_017008025.1:c.503A>C	XP_016863514.1:p.Glu168Ala
XM_017008026.2:c.1499A>C	XP_016863515.1:p.Glu500Ala
XR_001741201.1:n.1574A>C