Canonical Allele Identifier: CA349894325

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.947A>T MANE Select	NP_055177.2:p.Glu316Val
ENST00000359678.10:c.947A>T MANE Select	ENSP00000352706.5:p.Glu316Val
NM_014362.3:c.947A>T	NP_055177.2:p.Glu316Val
NM_198047.2:c.947A>T	NP_932164.1:p.Glu316Val
NM_198047.3:c.947A>T	NP_932164.1:p.Glu316Val
ENST00000359678.9:c.947A>T	ENSP00000352706.5:p.Glu316Val
ENST00000392332.7:c.947A>T	ENSP00000376144.3:p.Glu316Val
ENST00000409820.2:c.287A>T	ENSP00000387098.2:p.Glu96Val
ENST00000410045.5:c.278A>T	ENSP00000386274.1:p.Glu93Val
ENST00000416732.5:c.200A>T	ENSP00000399263.1:p.Glu67Val
ENST00000486981.1:n.216A>T
ENST00000489147.1:n.3090A>T
ENST00000622246.4:c.929A>T	ENSP00000481055.1:p.Glu310Val
XM_011510953.1:c.947A>T	XP_011509255.1:p.Glu316Val
XM_011510953.2:c.947A>T	XP_011509255.1:p.Glu316Val
XM_011510954.1:c.449A>T	XP_011509256.1:p.Glu150Val
XR_922903.1:n.1191A>T
XR_922903.2:n.1010A>T