Canonical Allele Identifier: CA349894326

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.947A>G MANE Select	NP_055177.2:p.Glu316Gly
ENST00000359678.10:c.947A>G MANE Select	ENSP00000352706.5:p.Glu316Gly
NM_014362.3:c.947A>G	NP_055177.2:p.Glu316Gly
NM_198047.2:c.947A>G	NP_932164.1:p.Glu316Gly
NM_198047.3:c.947A>G	NP_932164.1:p.Glu316Gly
ENST00000359678.9:c.947A>G	ENSP00000352706.5:p.Glu316Gly
ENST00000392332.7:c.947A>G	ENSP00000376144.3:p.Glu316Gly
ENST00000409820.2:c.287A>G	ENSP00000387098.2:p.Glu96Gly
ENST00000410045.5:c.278A>G	ENSP00000386274.1:p.Glu93Gly
ENST00000416732.5:c.200A>G	ENSP00000399263.1:p.Glu67Gly
ENST00000486981.1:n.216A>G
ENST00000489147.1:n.3090A>G
ENST00000622246.4:c.929A>G	ENSP00000481055.1:p.Glu310Gly
XM_011510953.1:c.947A>G	XP_011509255.1:p.Glu316Gly
XM_011510953.2:c.947A>G	XP_011509255.1:p.Glu316Gly
XM_011510954.1:c.449A>G	XP_011509256.1:p.Glu150Gly
XR_922903.1:n.1191A>G
XR_922903.2:n.1010A>G