Canonical Allele Identifier: CA430324481

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190296836G>T , CM000664.2:g.190296836G>T	GRCh38
NC_000002.11:g.191161562G>T , CM000664.1:g.191161562G>T	GRCh37
NC_000002.10:g.190869807G>T	NCBI36
NG_017062.1:g.28210C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.196C>A MANE Select	NP_055177.2:p.Arg66=
ENST00000359678.10:c.196C>A MANE Select	ENSP00000352706.5:p.Arg66=
NM_014362.3:c.196C>A	NP_055177.2:p.Arg66=
NM_198047.2:c.196C>A	NP_932164.1:p.Arg66=
NM_198047.3:c.196C>A	NP_932164.1:p.Arg66=
ENST00000359678.9:c.196C>A	ENSP00000352706.5:p.Arg66=
ENST00000392332.7:c.196C>A	ENSP00000376144.3:p.Arg66=
ENST00000409934.1:c.358C>A	ENSP00000387247.1:p.Arg120=
ENST00000622246.4:c.181C>A	ENSP00000481055.1:p.Arg61=
XM_011510953.1:c.196C>A	XP_011509255.1:p.Arg66=
XM_011510953.2:c.196C>A	XP_011509255.1:p.Arg66=
XR_922903.1:n.440C>A
XR_922903.2:n.259C>A