Canonical Allele Identifier: CA430320755

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213037T>C , CM000664.2:g.190213037T>C	GRCh38
NC_000002.11:g.191077763T>C , CM000664.1:g.191077763T>C	GRCh37
NC_000002.10:g.190786008T>C	NCBI36
NG_017062.1:g.112009A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.930A>G MANE Select	NP_055177.2:p.Thr310=
ENST00000359678.10:c.930A>G MANE Select	ENSP00000352706.5:p.Thr310=
NM_014362.3:c.930A>G	NP_055177.2:p.Thr310=
NM_198047.2:c.930A>G	NP_932164.1:p.Thr310=
NM_198047.3:c.930A>G	NP_932164.1:p.Thr310=
ENST00000359678.9:c.930A>G	ENSP00000352706.5:p.Thr310=
ENST00000392332.7:c.930A>G	ENSP00000376144.3:p.Thr310=
ENST00000409820.2:c.270A>G	ENSP00000387098.2:p.Thr90=
ENST00000410045.5:c.261A>G	ENSP00000386274.1:p.Thr87=
ENST00000416732.5:c.183A>G	ENSP00000399263.1:p.Thr61=
ENST00000486981.1:n.199A>G
ENST00000489147.1:n.3073A>G
ENST00000622246.4:c.912A>G	ENSP00000481055.1:p.Thr304=
XM_011510953.1:c.930A>G	XP_011509255.1:p.Thr310=
XM_011510953.2:c.930A>G	XP_011509255.1:p.Thr310=
XM_011510954.1:c.432A>G	XP_011509256.1:p.Thr144=
XR_922903.1:n.1174A>G
XR_922903.2:n.993A>G