Canonical Allele Identifier: CA1315939287
Community Standard Title: NM_014362.4(HIBCH):c.950G= (p.Gly317=)
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190213017C= , CM000664.2:g.190213017C= GRCh38
NC_000002.11:g.191077743C= , CM000664.1:g.191077743C= GRCh37
NC_000002.10:g.190785988C= NCBI36
NG_017062.1:g.112029G=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.950G= MANE Select NP_055177.2:p.Gly317=
ENST00000359678.10:c.950G= MANE Select ENSP00000352706.5:p.Gly317=
NM_014362.3:c.950G= NP_055177.2:p.Gly317=
NM_198047.2:c.950G= NP_932164.1:p.Gly317=
NM_198047.3:c.950G= NP_932164.1:p.Gly317=
ENST00000359678.9:c.950G= ENSP00000352706.5:p.Gly317=
ENST00000392332.7:c.950G= ENSP00000376144.3:p.Gly317=
ENST00000409820.2:c.290G= ENSP00000387098.2:p.Gly97=
ENST00000410045.5:c.281G= ENSP00000386274.1:p.Gly94=
ENST00000416732.5:c.203G= ENSP00000399263.1:p.Gly68=
ENST00000486981.1:n.219G=
ENST00000489147.1:n.3093G=
ENST00000622246.4:c.932G= ENSP00000481055.1:p.Gly311=
XM_011510953.1:c.950G= XP_011509255.1:p.Gly317=
XM_011510953.2:c.950G= XP_011509255.1:p.Gly317=
XM_011510954.1:c.452G= XP_011509256.1:p.Gly151=
XR_922903.1:n.1194G=
XR_922903.2:n.1013G=