Canonical Allele Identifier: CA2577788547
Gene: ITIH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52786912G>C , CM000665.2:g.52786912G>C GRCh38
NC_000003.11:g.52820928G>C , CM000665.1:g.52820928G>C GRCh37
NC_000003.10:g.52795968G>C NCBI36
NG_016005.1:g.14321G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000273283.7:c.1734-33G>C MANE Select ENSP00000273283.2:n.1734-33G>C
ENST00000273283.6:c.1734-33G>C ENSP00000273283.2:n.1734-33G>C
ENST00000428133.5:c.393-33G>C ENSP00000395836.1:n.393-33G>C
ENST00000537050.5:c.870-33G>C ENSP00000443847.1:n.870-33G>C
ENST00000628722.2:n.1589-33G>C
NM_001166434.2:c.1308-33G>C NP_001159906.1:n.1308-33G>C
NM_001166435.2:c.870-33G>C NP_001159907.1:n.870-33G>C
NM_001166436.2:c.870-33G>C NP_001159908.1:n.870-33G>C
NM_002215.3:c.1734-33G>C NP_002206.2:n.1734-33G>C
NM_002215.4:c.1734-33G>C MANE Select NP_002206.2:n.1734-33G>C
NM_001166434.3:c.1308-33G>C NP_001159906.1:n.1308-33G>C
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