Canonical Allele Identifier: CA3095416038
Community Standard Title: NM_014362.4(HIBCH):c.929C= (p.Thr310=)
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190213038G= , CM000664.2:g.190213038G= GRCh38
NC_000002.11:g.191077764G= , CM000664.1:g.191077764G= GRCh37
NC_000002.10:g.190786009G= NCBI36
NG_017062.1:g.112008C=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.929C= MANE Select NP_055177.2:p.Thr310=
ENST00000359678.10:c.929C= MANE Select ENSP00000352706.5:p.Thr310=
NM_014362.3:c.929C= NP_055177.2:p.Thr310=
NM_198047.2:c.929C= NP_932164.1:p.Thr310=
NM_198047.3:c.929C= NP_932164.1:p.Thr310=
ENST00000359678.9:c.929C= ENSP00000352706.5:p.Thr310=
ENST00000392332.7:c.929C= ENSP00000376144.3:p.Thr310=
ENST00000409820.2:c.269C= ENSP00000387098.2:p.Thr90=
ENST00000410045.5:c.260C= ENSP00000386274.1:p.Thr87=
ENST00000416732.5:c.182C= ENSP00000399263.1:p.Thr61=
ENST00000486981.1:n.198C=
ENST00000489147.1:n.3072C=
ENST00000622246.4:c.911C= ENSP00000481055.1:p.Thr304=
XM_011510953.1:c.929C= XP_011509255.1:p.Thr310=
XM_011510953.2:c.929C= XP_011509255.1:p.Thr310=
XM_011510954.1:c.431C= XP_011509256.1:p.Thr144=
XR_922903.1:n.1173C=
XR_922903.2:n.992C=