Canonical Allele Identifier: CA1365020080
Gene: ITIH1 HGNC NCBI

Linked Data

dbSNP Id: rs1578734617
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52783596C>G , CM000665.2:g.52783596C>G GRCh38
NC_000003.11:g.52817612C>G , CM000665.1:g.52817612C>G GRCh37
NC_000003.10:g.52792652C>G NCBI36
NG_016005.1:g.11005C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000273283.7:c.1225+257C>G MANE Select ENSP00000273283.2:n.1225+257C>G
ENST00000273283.6:c.1225+257C>G ENSP00000273283.2:n.1225+257C>G
ENST00000537050.5:c.361+257C>G ENSP00000443847.1:n.361+257C>G
ENST00000628722.2:n.1080+257C>G
NM_001166434.2:c.799+257C>G NP_001159906.1:n.799+257C>G
NM_001166435.2:c.361+257C>G NP_001159907.1:n.361+257C>G
NM_001166436.2:c.361+257C>G NP_001159908.1:n.361+257C>G
NM_002215.3:c.1225+257C>G NP_002206.2:n.1225+257C>G
NM_002215.4:c.1225+257C>G MANE Select NP_002206.2:n.1225+257C>G
NM_001166434.3:c.799+257C>G NP_001159906.1:n.799+257C>G
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