Canonical Allele Identifier: CA2840122971

Gene: ITIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52786894A>C , CM000665.2:g.52786894A>C	GRCh38
NC_000003.11:g.52820910A>C , CM000665.1:g.52820910A>C	GRCh37
NC_000003.10:g.52795950A>C	NCBI36
NG_016005.1:g.14303A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273283.7:c.1734-51A>C MANE Select	ENSP00000273283.2:n.1734-51A>C
ENST00000273283.6:c.1734-51A>C	ENSP00000273283.2:n.1734-51A>C
ENST00000428133.5:c.393-51A>C	ENSP00000395836.1:n.393-51A>C
ENST00000537050.5:c.870-51A>C	ENSP00000443847.1:n.870-51A>C
ENST00000628722.2:n.1589-51A>C
NM_001166434.2:c.1308-51A>C	NP_001159906.1:n.1308-51A>C
NM_001166435.2:c.870-51A>C	NP_001159907.1:n.870-51A>C
NM_001166436.2:c.870-51A>C	NP_001159908.1:n.870-51A>C
NM_002215.3:c.1734-51A>C	NP_002206.2:n.1734-51A>C
NM_002215.4:c.1734-51A>C MANE Select	NP_002206.2:n.1734-51A>C
NM_001166434.3:c.1308-51A>C	NP_001159906.1:n.1308-51A>C