Canonical Allele Identifier: CA2577788548
Gene: ITIH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52786922G>A , CM000665.2:g.52786922G>A GRCh38
NC_000003.11:g.52820938G>A , CM000665.1:g.52820938G>A GRCh37
NC_000003.10:g.52795978G>A NCBI36
NG_016005.1:g.14331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000273283.7:c.1734-23G>A MANE Select ENSP00000273283.2:n.1734-23G>A
ENST00000273283.6:c.1734-23G>A ENSP00000273283.2:n.1734-23G>A
ENST00000428133.5:c.393-23G>A ENSP00000395836.1:n.393-23G>A
ENST00000537050.5:c.870-23G>A ENSP00000443847.1:n.870-23G>A
ENST00000628722.2:n.1589-23G>A
NM_001166434.2:c.1308-23G>A NP_001159906.1:n.1308-23G>A
NM_001166435.2:c.870-23G>A NP_001159907.1:n.870-23G>A
NM_001166436.2:c.870-23G>A NP_001159908.1:n.870-23G>A
NM_002215.3:c.1734-23G>A NP_002206.2:n.1734-23G>A
NM_002215.4:c.1734-23G>A MANE Select NP_002206.2:n.1734-23G>A
NM_001166434.3:c.1308-23G>A NP_001159906.1:n.1308-23G>A
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