Canonical Allele Identifier: CA349894331

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.945G>T MANE Select	NP_055177.2:p.Met315Ile
ENST00000359678.10:c.945G>T MANE Select	ENSP00000352706.5:p.Met315Ile
NM_014362.3:c.945G>T	NP_055177.2:p.Met315Ile
NM_198047.2:c.945G>T	NP_932164.1:p.Met315Ile
NM_198047.3:c.945G>T	NP_932164.1:p.Met315Ile
ENST00000359678.9:c.945G>T	ENSP00000352706.5:p.Met315Ile
ENST00000392332.7:c.945G>T	ENSP00000376144.3:p.Met315Ile
ENST00000409820.2:c.285G>T	ENSP00000387098.2:p.Met95Ile
ENST00000410045.5:c.276G>T	ENSP00000386274.1:p.Met92Ile
ENST00000416732.5:c.198G>T	ENSP00000399263.1:p.Met66Ile
ENST00000486981.1:n.214G>T
ENST00000489147.1:n.3088G>T
ENST00000622246.4:c.927G>T	ENSP00000481055.1:p.Met309Ile
XM_011510953.1:c.945G>T	XP_011509255.1:p.Met315Ile
XM_011510953.2:c.945G>T	XP_011509255.1:p.Met315Ile
XM_011510954.1:c.447G>T	XP_011509256.1:p.Met149Ile
XR_922903.1:n.1189G>T
XR_922903.2:n.1008G>T