Canonical Allele Identifier: CA349894364

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.928A>G MANE Select	NP_055177.2:p.Thr310Ala
ENST00000359678.10:c.928A>G MANE Select	ENSP00000352706.5:p.Thr310Ala
NM_014362.3:c.928A>G	NP_055177.2:p.Thr310Ala
NM_198047.2:c.928A>G	NP_932164.1:p.Thr310Ala
NM_198047.3:c.928A>G	NP_932164.1:p.Thr310Ala
ENST00000359678.9:c.928A>G	ENSP00000352706.5:p.Thr310Ala
ENST00000392332.7:c.928A>G	ENSP00000376144.3:p.Thr310Ala
ENST00000409820.2:c.268A>G	ENSP00000387098.2:p.Thr90Ala
ENST00000410045.5:c.259A>G	ENSP00000386274.1:p.Thr87Ala
ENST00000416732.5:c.181A>G	ENSP00000399263.1:p.Thr61Ala
ENST00000486981.1:n.197A>G
ENST00000489147.1:n.3071A>G
ENST00000622246.4:c.910A>G	ENSP00000481055.1:p.Thr304Ala
XM_011510953.1:c.928A>G	XP_011509255.1:p.Thr310Ala
XM_011510953.2:c.928A>G	XP_011509255.1:p.Thr310Ala
XM_011510954.1:c.430A>G	XP_011509256.1:p.Thr144Ala
XR_922903.1:n.1172A>G
XR_922903.2:n.991A>G