Canonical Allele Identifier: CA1315956069
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190248237T= , CM000664.2:g.190248237T= GRCh38
NC_000002.11:g.191112963T= , CM000664.1:g.191112963T= GRCh37
NC_000002.10:g.190821208T= NCBI36
NG_017062.1:g.76809A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000359678.10:c.750+1403A= MANE Select ENSP00000352706.5:n.750+1403A=
ENST00000359678.9:c.750+1403A= ENSP00000352706.5:n.750+1403A=
ENST00000392332.7:c.750+1403A= ENSP00000376144.3:n.750+1403A=
ENST00000392333.7:c.367+1403A=
ENST00000409820.2:c.90+1403A= ENSP00000387098.2:n.90+1403A=
ENST00000410045.5:c.81+1403A= ENSP00000386274.1:n.81+1403A=
ENST00000485992.1:n.371+1403A=
ENST00000622246.4:c.732+1403A= ENSP00000481055.1:n.732+1403A=
NM_014362.3:c.750+1403A= NP_055177.2:n.750+1403A=
NM_198047.2:c.750+1403A= NP_932164.1:n.750+1403A=
XM_011510953.1:c.750+1403A= XP_011509255.1:n.750+1403A=
XM_011510954.1:c.252+1403A= XP_011509256.1:n.252+1403A=
XR_922903.1:n.994+1403A=
XM_011510953.2:c.750+1403A= XP_011509255.1:n.750+1403A=
XR_922903.2:n.813+1403A=
NM_014362.4:c.750+1403A= MANE Select NP_055177.2:n.750+1403A=
NM_198047.3:c.750+1403A= NP_932164.1:n.750+1403A=