Canonical Allele Identifier: CA349894360

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213038G>A , CM000664.2:g.190213038G>A	GRCh38
NC_000002.11:g.191077764G>A , CM000664.1:g.191077764G>A	GRCh37
NC_000002.10:g.190786009G>A	NCBI36
NG_017062.1:g.112008C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.929C>T MANE Select	NP_055177.2:p.Thr310Ile
ENST00000359678.10:c.929C>T MANE Select	ENSP00000352706.5:p.Thr310Ile
NM_014362.3:c.929C>T	NP_055177.2:p.Thr310Ile
NM_198047.2:c.929C>T	NP_932164.1:p.Thr310Ile
NM_198047.3:c.929C>T	NP_932164.1:p.Thr310Ile
ENST00000359678.9:c.929C>T	ENSP00000352706.5:p.Thr310Ile
ENST00000392332.7:c.929C>T	ENSP00000376144.3:p.Thr310Ile
ENST00000409820.2:c.269C>T	ENSP00000387098.2:p.Thr90Ile
ENST00000410045.5:c.260C>T	ENSP00000386274.1:p.Thr87Ile
ENST00000416732.5:c.182C>T	ENSP00000399263.1:p.Thr61Ile
ENST00000486981.1:n.198C>T
ENST00000489147.1:n.3072C>T
ENST00000622246.4:c.911C>T	ENSP00000481055.1:p.Thr304Ile
XM_011510953.1:c.929C>T	XP_011509255.1:p.Thr310Ile
XM_011510953.2:c.929C>T	XP_011509255.1:p.Thr310Ile
XM_011510954.1:c.431C>T	XP_011509256.1:p.Thr144Ile
XR_922903.1:n.1173C>T
XR_922903.2:n.992C>T