Canonical Allele Identifier: CA74475296

Gene: IHO1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49256498C>T , CM000665.2:g.49256498C>T	GRCh38
NC_000003.11:g.49293931C>T , CM000665.1:g.49293931C>T	GRCh37
NC_000003.10:g.49268935C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001135197.2:c.1001C>T MANE Select	NP_001128669.1:p.Ala334Val
ENST00000452691.7:c.1001C>T MANE Select	ENSP00000407837.2:p.Ala334Val
NM_001135197.1:c.1001C>T	NP_001128669.1:p.Ala334Val
NM_178173.3:c.1001C>T	NP_835467.2:p.Ala334Val
NM_178173.4:c.1001C>T	NP_835467.2:p.Ala334Val
ENST00000296449.9:c.1001C>T	ENSP00000296449.5:p.Ala334Val
ENST00000438782.5:c.1001C>T	ENSP00000391788.1:p.Ala334Val
ENST00000452691.6:c.1001C>T	ENSP00000407837.2:p.Ala334Val
XM_006713124.2:c.1001C>T	XP_006713187.1:p.Ala334Val
XM_006713124.3:c.1001C>T	XP_006713187.1:p.Ala334Val
XM_011533670.1:c.1022C>T	XP_011531972.1:p.Ala341Val
XM_011533670.2:c.1022C>T	XP_011531972.1:p.Ala341Val
XM_011533671.1:c.1016C>T	XP_011531973.1:p.Ala339Val
XM_011533671.2:c.1016C>T	XP_011531973.1:p.Ala339Val
XM_011533672.1:c.1001C>T	XP_011531974.1:p.Ala334Val
XM_011533672.2:c.1001C>T	XP_011531974.1:p.Ala334Val
XM_011533673.1:c.1001C>T	XP_011531975.1:p.Ala334Val
XM_011533673.2:c.1001C>T	XP_011531975.1:p.Ala334Val