Canonical Allele Identifier: CA3095415369
Community Standard Title: NM_014362.4(HIBCH):c.1011+27T=
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190212929A= , CM000664.2:g.190212929A= GRCh38
NC_000002.11:g.191077655A= , CM000664.1:g.191077655A= GRCh37
NC_000002.10:g.190785900A= NCBI36
NG_017062.1:g.112117T=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.1011+27T= MANE Select NP_055177.2:n.1011+27T=
ENST00000359678.10:c.1011+27T= MANE Select ENSP00000352706.5:n.1011+27T=
NM_014362.3:c.1011+27T= NP_055177.2:n.1011+27T=
NM_198047.2:c.1011+27T= NP_932164.1:n.1011+27T=
NM_198047.3:c.1011+27T= NP_932164.1:n.1011+27T=
ENST00000359678.9:c.1011+27T= ENSP00000352706.5:n.1011+27T=
ENST00000392332.7:c.1011+27T= ENSP00000376144.3:n.1011+27T=
ENST00000409820.2:c.351+27T= ENSP00000387098.2:n.351+27T=
ENST00000410045.5:c.342+27T= ENSP00000386274.1:n.342+27T=
ENST00000416732.5:c.264+27T= ENSP00000399263.1:n.264+27T=
ENST00000486981.1:n.280+27T=
ENST00000489147.1:n.3154+27T=
ENST00000622246.4:c.993+27T= ENSP00000481055.1:n.993+27T=
XM_011510953.1:c.1011+27T= XP_011509255.1:n.1011+27T=
XM_011510953.2:c.1011+27T= XP_011509255.1:n.1011+27T=
XM_011510954.1:c.513+27T= XP_011509256.1:n.513+27T=
XR_922903.1:n.1255+27T=
XR_922903.2:n.1074+27T=