Canonical Allele Identifier: CA1315939288

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213019C= , CM000664.2:g.190213019C=	GRCh38
NC_000002.11:g.191077745C= , CM000664.1:g.191077745C=	GRCh37
NC_000002.10:g.190785990C=	NCBI36
NG_017062.1:g.112027G=

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.948G= MANE Select	NP_055177.2:p.Glu316=
ENST00000359678.10:c.948G= MANE Select	ENSP00000352706.5:p.Glu316=
NM_014362.3:c.948G=	NP_055177.2:p.Glu316=
NM_198047.2:c.948G=	NP_932164.1:p.Glu316=
NM_198047.3:c.948G=	NP_932164.1:p.Glu316=
ENST00000359678.9:c.948G=	ENSP00000352706.5:p.Glu316=
ENST00000392332.7:c.948G=	ENSP00000376144.3:p.Glu316=
ENST00000409820.2:c.288G=	ENSP00000387098.2:p.Glu96=
ENST00000410045.5:c.279G=	ENSP00000386274.1:p.Glu93=
ENST00000416732.5:c.201G=	ENSP00000399263.1:p.Glu67=
ENST00000486981.1:n.217G=
ENST00000489147.1:n.3091G=
ENST00000622246.4:c.930G=	ENSP00000481055.1:p.Glu310=
XM_011510953.1:c.948G=	XP_011509255.1:p.Glu316=
XM_011510953.2:c.948G=	XP_011509255.1:p.Glu316=
XM_011510954.1:c.450G=	XP_011509256.1:p.Glu150=
XR_922903.1:n.1192G=
XR_922903.2:n.1011G=