Canonical Allele Identifier: CA349894363

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213039T>G , CM000664.2:g.190213039T>G	GRCh38
NC_000002.11:g.191077765T>G , CM000664.1:g.191077765T>G	GRCh37
NC_000002.10:g.190786010T>G	NCBI36
NG_017062.1:g.112007A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.928A>C MANE Select	NP_055177.2:p.Thr310Pro
ENST00000359678.10:c.928A>C MANE Select	ENSP00000352706.5:p.Thr310Pro
NM_014362.3:c.928A>C	NP_055177.2:p.Thr310Pro
NM_198047.2:c.928A>C	NP_932164.1:p.Thr310Pro
NM_198047.3:c.928A>C	NP_932164.1:p.Thr310Pro
ENST00000359678.9:c.928A>C	ENSP00000352706.5:p.Thr310Pro
ENST00000392332.7:c.928A>C	ENSP00000376144.3:p.Thr310Pro
ENST00000409820.2:c.268A>C	ENSP00000387098.2:p.Thr90Pro
ENST00000410045.5:c.259A>C	ENSP00000386274.1:p.Thr87Pro
ENST00000416732.5:c.181A>C	ENSP00000399263.1:p.Thr61Pro
ENST00000486981.1:n.197A>C
ENST00000489147.1:n.3071A>C
ENST00000622246.4:c.910A>C	ENSP00000481055.1:p.Thr304Pro
XM_011510953.1:c.928A>C	XP_011509255.1:p.Thr310Pro
XM_011510953.2:c.928A>C	XP_011509255.1:p.Thr310Pro
XM_011510954.1:c.430A>C	XP_011509256.1:p.Thr144Pro
XR_922903.1:n.1172A>C
XR_922903.2:n.991A>C