Canonical Allele Identifier: CA2338111108
Gene: CBLC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44793549C= , CM000681.2:g.44793549C= GRCh38
NC_000019.9:g.45296806C= , CM000681.1:g.45296806C= GRCh37
NC_000019.8:g.49988646C= NCBI36
NG_054718.1:g.20695C=

Transcript Alleles

HGVS Amino-acid change
ENST00000647358.2:c.1213C= MANE Select ENSP00000494162.1:p.His405=
ENST00000270279.7:c.1213C= ENSP00000270279.3:p.His405=
ENST00000341505.4:c.1075C= ENSP00000340250.4:p.His359=
NM_001130852.1:c.1075C= NP_001124324.1:p.His359=
NM_012116.3:c.1213C= NP_036248.3:p.His405=
XM_005258696.2:c.1213C= XP_005258753.1:p.His405=
XM_011526688.1:c.1213C= XP_011524990.1:p.His405=
XM_011526689.1:c.1075C= XP_011524991.1:p.His359=
XR_935783.1:n.1160C=
NM_012116.4:c.1213C= MANE Select NP_036248.3:p.His405=
XM_005258696.3:c.1213C= XP_005258753.1:p.His405=
XM_011526688.2:c.1213C= XP_011524990.1:p.His405=
XM_011526689.2:c.1075C= XP_011524991.1:p.His359=
XR_935783.2:n.1165C=