Canonical Allele Identifier: CA349894330

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213021C>T , CM000664.2:g.190213021C>T	GRCh38
NC_000002.11:g.191077747C>T , CM000664.1:g.191077747C>T	GRCh37
NC_000002.10:g.190785992C>T	NCBI36
NG_017062.1:g.112025G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.946G>A MANE Select	NP_055177.2:p.Glu316Lys
ENST00000359678.10:c.946G>A MANE Select	ENSP00000352706.5:p.Glu316Lys
NM_014362.3:c.946G>A	NP_055177.2:p.Glu316Lys
NM_198047.2:c.946G>A	NP_932164.1:p.Glu316Lys
NM_198047.3:c.946G>A	NP_932164.1:p.Glu316Lys
ENST00000359678.9:c.946G>A	ENSP00000352706.5:p.Glu316Lys
ENST00000392332.7:c.946G>A	ENSP00000376144.3:p.Glu316Lys
ENST00000409820.2:c.286G>A	ENSP00000387098.2:p.Glu96Lys
ENST00000410045.5:c.277G>A	ENSP00000386274.1:p.Glu93Lys
ENST00000416732.5:c.199G>A	ENSP00000399263.1:p.Glu67Lys
ENST00000486981.1:n.215G>A
ENST00000489147.1:n.3089G>A
ENST00000622246.4:c.928G>A	ENSP00000481055.1:p.Glu310Lys
XM_011510953.1:c.946G>A	XP_011509255.1:p.Glu316Lys
XM_011510953.2:c.946G>A	XP_011509255.1:p.Glu316Lys
XM_011510954.1:c.448G>A	XP_011509256.1:p.Glu150Lys
XR_922903.1:n.1190G>A
XR_922903.2:n.1009G>A