Canonical Allele Identifier: CA3095415987
Community Standard Title: NM_014362.4(HIBCH):c.936G= (p.Arg312=)
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190213031C= , CM000664.2:g.190213031C= GRCh38
NC_000002.11:g.191077757C= , CM000664.1:g.191077757C= GRCh37
NC_000002.10:g.190786002C= NCBI36
NG_017062.1:g.112015G=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.936G= MANE Select NP_055177.2:p.Arg312=
ENST00000359678.10:c.936G= MANE Select ENSP00000352706.5:p.Arg312=
NM_014362.3:c.936G= NP_055177.2:p.Arg312=
NM_198047.2:c.936G= NP_932164.1:p.Arg312=
NM_198047.3:c.936G= NP_932164.1:p.Arg312=
ENST00000359678.9:c.936G= ENSP00000352706.5:p.Arg312=
ENST00000392332.7:c.936G= ENSP00000376144.3:p.Arg312=
ENST00000409820.2:c.276G= ENSP00000387098.2:p.Arg92=
ENST00000410045.5:c.267G= ENSP00000386274.1:p.Arg89=
ENST00000416732.5:c.189G= ENSP00000399263.1:p.Arg63=
ENST00000486981.1:n.205G=
ENST00000489147.1:n.3079G=
ENST00000622246.4:c.918G= ENSP00000481055.1:p.Arg306=
XM_011510953.1:c.936G= XP_011509255.1:p.Arg312=
XM_011510953.2:c.936G= XP_011509255.1:p.Arg312=
XM_011510954.1:c.438G= XP_011509256.1:p.Arg146=
XR_922903.1:n.1180G=
XR_922903.2:n.999G=