Canonical Allele Identifier: CA3095415937

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213020T= , CM000664.2:g.190213020T=	GRCh38
NC_000002.11:g.191077746T= , CM000664.1:g.191077746T=	GRCh37
NC_000002.10:g.190785991T=	NCBI36
NG_017062.1:g.112026A=

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.947A= MANE Select	NP_055177.2:p.Glu316=
ENST00000359678.10:c.947A= MANE Select	ENSP00000352706.5:p.Glu316=
NM_014362.3:c.947A=	NP_055177.2:p.Glu316=
NM_198047.2:c.947A=	NP_932164.1:p.Glu316=
NM_198047.3:c.947A=	NP_932164.1:p.Glu316=
ENST00000359678.9:c.947A=	ENSP00000352706.5:p.Glu316=
ENST00000392332.7:c.947A=	ENSP00000376144.3:p.Glu316=
ENST00000409820.2:c.287A=	ENSP00000387098.2:p.Glu96=
ENST00000410045.5:c.278A=	ENSP00000386274.1:p.Glu93=
ENST00000416732.5:c.200A=	ENSP00000399263.1:p.Glu67=
ENST00000486981.1:n.216A=
ENST00000489147.1:n.3090A=
ENST00000622246.4:c.929A=	ENSP00000481055.1:p.Glu310=
XM_011510953.1:c.947A=	XP_011509255.1:p.Glu316=
XM_011510953.2:c.947A=	XP_011509255.1:p.Glu316=
XM_011510954.1:c.449A=	XP_011509256.1:p.Glu150=
XR_922903.1:n.1191A=
XR_922903.2:n.1010A=