Canonical Allele Identifier: CA349894324

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213019C>A , CM000664.2:g.190213019C>A	GRCh38
NC_000002.11:g.191077745C>A , CM000664.1:g.191077745C>A	GRCh37
NC_000002.10:g.190785990C>A	NCBI36
NG_017062.1:g.112027G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.948G>T MANE Select	NP_055177.2:p.Glu316Asp
ENST00000359678.10:c.948G>T MANE Select	ENSP00000352706.5:p.Glu316Asp
NM_014362.3:c.948G>T	NP_055177.2:p.Glu316Asp
NM_198047.2:c.948G>T	NP_932164.1:p.Glu316Asp
NM_198047.3:c.948G>T	NP_932164.1:p.Glu316Asp
ENST00000359678.9:c.948G>T	ENSP00000352706.5:p.Glu316Asp
ENST00000392332.7:c.948G>T	ENSP00000376144.3:p.Glu316Asp
ENST00000409820.2:c.288G>T	ENSP00000387098.2:p.Glu96Asp
ENST00000410045.5:c.279G>T	ENSP00000386274.1:p.Glu93Asp
ENST00000416732.5:c.201G>T	ENSP00000399263.1:p.Glu67Asp
ENST00000486981.1:n.217G>T
ENST00000489147.1:n.3091G>T
ENST00000622246.4:c.930G>T	ENSP00000481055.1:p.Glu310Asp
XM_011510953.1:c.948G>T	XP_011509255.1:p.Glu316Asp
XM_011510953.2:c.948G>T	XP_011509255.1:p.Glu316Asp
XM_011510954.1:c.450G>T	XP_011509256.1:p.Glu150Asp
XR_922903.1:n.1192G>T
XR_922903.2:n.1011G>T