Canonical Allele Identifier: CA1315939295

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213035A= , CM000664.2:g.190213035A=	GRCh38
NC_000002.11:g.191077761A= , CM000664.1:g.191077761A=	GRCh37
NC_000002.10:g.190786006A=	NCBI36
NG_017062.1:g.112011T=

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.932T= MANE Select	NP_055177.2:p.Leu311=
ENST00000359678.10:c.932T= MANE Select	ENSP00000352706.5:p.Leu311=
NM_014362.3:c.932T=	NP_055177.2:p.Leu311=
NM_198047.2:c.932T=	NP_932164.1:p.Leu311=
NM_198047.3:c.932T=	NP_932164.1:p.Leu311=
ENST00000359678.9:c.932T=	ENSP00000352706.5:p.Leu311=
ENST00000392332.7:c.932T=	ENSP00000376144.3:p.Leu311=
ENST00000409820.2:c.272T=	ENSP00000387098.2:p.Leu91=
ENST00000410045.5:c.263T=	ENSP00000386274.1:p.Leu88=
ENST00000416732.5:c.185T=	ENSP00000399263.1:p.Leu62=
ENST00000486981.1:n.201T=
ENST00000489147.1:n.3075T=
ENST00000622246.4:c.914T=	ENSP00000481055.1:p.Leu305=
XM_011510953.1:c.932T=	XP_011509255.1:p.Leu311=
XM_011510953.2:c.932T=	XP_011509255.1:p.Leu311=
XM_011510954.1:c.434T=	XP_011509256.1:p.Leu145=
XR_922903.1:n.1176T=
XR_922903.2:n.995T=