Canonical Allele Identifier: CA349894328

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.946G>T MANE Select	NP_055177.2:p.Glu316Ter
ENST00000359678.10:c.946G>T MANE Select	ENSP00000352706.5:p.Glu316Ter
NM_014362.3:c.946G>T	NP_055177.2:p.Glu316Ter
NM_198047.2:c.946G>T	NP_932164.1:p.Glu316Ter
NM_198047.3:c.946G>T	NP_932164.1:p.Glu316Ter
ENST00000359678.9:c.946G>T	ENSP00000352706.5:p.Glu316Ter
ENST00000392332.7:c.946G>T	ENSP00000376144.3:p.Glu316Ter
ENST00000409820.2:c.286G>T	ENSP00000387098.2:p.Glu96Ter
ENST00000410045.5:c.277G>T	ENSP00000386274.1:p.Glu93Ter
ENST00000416732.5:c.199G>T	ENSP00000399263.1:p.Glu67Ter
ENST00000486981.1:n.215G>T
ENST00000489147.1:n.3089G>T
ENST00000622246.4:c.928G>T	ENSP00000481055.1:p.Glu310Ter
XM_011510953.1:c.946G>T	XP_011509255.1:p.Glu316Ter
XM_011510953.2:c.946G>T	XP_011509255.1:p.Glu316Ter
XM_011510954.1:c.448G>T	XP_011509256.1:p.Glu150Ter
XR_922903.1:n.1190G>T
XR_922903.2:n.1009G>T