Canonical Allele Identifier: CA349894361

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.929C>G MANE Select	NP_055177.2:p.Thr310Arg
ENST00000359678.10:c.929C>G MANE Select	ENSP00000352706.5:p.Thr310Arg
NM_014362.3:c.929C>G	NP_055177.2:p.Thr310Arg
NM_198047.2:c.929C>G	NP_932164.1:p.Thr310Arg
NM_198047.3:c.929C>G	NP_932164.1:p.Thr310Arg
ENST00000359678.9:c.929C>G	ENSP00000352706.5:p.Thr310Arg
ENST00000392332.7:c.929C>G	ENSP00000376144.3:p.Thr310Arg
ENST00000409820.2:c.269C>G	ENSP00000387098.2:p.Thr90Arg
ENST00000410045.5:c.260C>G	ENSP00000386274.1:p.Thr87Arg
ENST00000416732.5:c.182C>G	ENSP00000399263.1:p.Thr61Arg
ENST00000486981.1:n.198C>G
ENST00000489147.1:n.3072C>G
ENST00000622246.4:c.911C>G	ENSP00000481055.1:p.Thr304Arg
XM_011510953.1:c.929C>G	XP_011509255.1:p.Thr310Arg
XM_011510953.2:c.929C>G	XP_011509255.1:p.Thr310Arg
XM_011510954.1:c.431C>G	XP_011509256.1:p.Thr144Arg
XR_922903.1:n.1173C>G
XR_922903.2:n.992C>G