Canonical Allele Identifier: CA433782893
Gene: ITIH3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.52833092T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52799076T>C , CM000665.2:g.52799076T>C GRCh38
NC_000003.11:g.52833092T>C , CM000665.1:g.52833092T>C GRCh37
NC_000003.10:g.52808132T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000703834.1:c.774T>C ENSP00000515492.1:p.Ser258=
ENST00000449956.3:c.774T>C MANE Select ENSP00000415769.2:p.Ser258=
ENST00000416872.6:c.774T>C ENSP00000413922.2:p.Ser258=
ENST00000449956.2:c.774T>C ENSP00000415769.2:p.Ser258=
ENST00000463893.1:n.273T>C
ENST00000465243.6:n.298T>C
ENST00000621946.4:c.774T>C ENSP00000479928.1:p.Ser258=
NM_002217.3:c.774T>C NP_002208.3:p.Ser258=
XM_005265105.3:c.774T>C XP_005265162.1:p.Ser258=
XM_006713129.2:c.774T>C XP_006713192.1:p.Ser258=
XM_006713130.2:c.774T>C XP_006713193.1:p.Ser258=
XM_005265105.5:c.774T>C XP_005265162.1:p.Ser258=
XM_024453512.1:c.-109T>C XP_024309280.1:n.-109T>C
NM_001392019.1:c.774T>C NP_001378948.1:p.Ser258=
NM_001392020.1:c.774T>C NP_001378949.1:p.Ser258=
NM_001392021.1:c.774T>C NP_001378950.1:p.Ser258=
NM_001392022.1:c.774T>C NP_001378951.1:p.Ser258=
NM_001392023.1:c.753T>C NP_001378952.1:p.Ser251=
NM_001392024.1:c.774T>C NP_001378953.1:p.Ser258=
NM_001392025.1:c.774T>C NP_001378954.1:p.Ser258=
NM_001392026.1:c.774T>C NP_001378955.1:p.Ser258=
NM_001392027.1:c.774T>C NP_001378956.1:p.Ser258=
NM_002217.4:c.774T>C MANE Select NP_002208.3:p.Ser258=