Canonical Allele Identifier: CA1315939289
Community Standard Title: NM_014362.4(HIBCH):c.945G= (p.Met315=)
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190213022C= , CM000664.2:g.190213022C= GRCh38
NC_000002.11:g.191077748C= , CM000664.1:g.191077748C= GRCh37
NC_000002.10:g.190785993C= NCBI36
NG_017062.1:g.112024G=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.945G= MANE Select NP_055177.2:p.Met315=
ENST00000359678.10:c.945G= MANE Select ENSP00000352706.5:p.Met315=
NM_014362.3:c.945G= NP_055177.2:p.Met315=
NM_198047.2:c.945G= NP_932164.1:p.Met315=
NM_198047.3:c.945G= NP_932164.1:p.Met315=
ENST00000359678.9:c.945G= ENSP00000352706.5:p.Met315=
ENST00000392332.7:c.945G= ENSP00000376144.3:p.Met315=
ENST00000409820.2:c.285G= ENSP00000387098.2:p.Met95=
ENST00000410045.5:c.276G= ENSP00000386274.1:p.Met92=
ENST00000416732.5:c.198G= ENSP00000399263.1:p.Met66=
ENST00000486981.1:n.214G=
ENST00000489147.1:n.3088G=
ENST00000622246.4:c.927G= ENSP00000481055.1:p.Met309=
XM_011510953.1:c.945G= XP_011509255.1:p.Met315=
XM_011510953.2:c.945G= XP_011509255.1:p.Met315=
XM_011510954.1:c.447G= XP_011509256.1:p.Met149=
XR_922903.1:n.1189G=
XR_922903.2:n.1008G=