Canonical Allele Identifier: CA1365021727
Gene: ITIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52786975C= , CM000665.2:g.52786975C= GRCh38
NC_000003.11:g.52820991C= , CM000665.1:g.52820991C= GRCh37
NC_000003.10:g.52796031C= NCBI36
NG_016005.1:g.14384C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000273283.7:c.1764C= MANE Select ENSP00000273283.2:p.Asn588=
ENST00000273283.6:c.1764C= ENSP00000273283.2:p.Asn588=
ENST00000428133.5:c.423C= ENSP00000395836.1:p.Asn141=
ENST00000484844.2:c.31C=
ENST00000537050.5:c.900C= ENSP00000443847.1:p.Asn300=
ENST00000628722.2:n.1619C=
NM_001166434.2:c.1338C= NP_001159906.1:p.Asn446=
NM_001166435.2:c.900C= NP_001159907.1:p.Asn300=
NM_001166436.2:c.900C= NP_001159908.1:p.Asn300=
NM_002215.3:c.1764C= NP_002206.2:p.Asn588=
NM_002215.4:c.1764C= MANE Select NP_002206.2:p.Asn588=
NM_001166434.3:c.1338C= NP_001159906.1:p.Asn446=