Canonical Allele Identifier: CA430320760

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213040G>A , CM000664.2:g.190213040G>A	GRCh38
NC_000002.11:g.191077766G>A , CM000664.1:g.191077766G>A	GRCh37
NC_000002.10:g.190786011G>A	NCBI36
NG_017062.1:g.112006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.927C>T MANE Select	NP_055177.2:p.Ile309=
ENST00000359678.10:c.927C>T MANE Select	ENSP00000352706.5:p.Ile309=
NM_014362.3:c.927C>T	NP_055177.2:p.Ile309=
NM_198047.2:c.927C>T	NP_932164.1:p.Ile309=
NM_198047.3:c.927C>T	NP_932164.1:p.Ile309=
ENST00000359678.9:c.927C>T	ENSP00000352706.5:p.Ile309=
ENST00000392332.7:c.927C>T	ENSP00000376144.3:p.Ile309=
ENST00000409820.2:c.267C>T	ENSP00000387098.2:p.Ile89=
ENST00000410045.5:c.258C>T	ENSP00000386274.1:p.Ile86=
ENST00000416732.5:c.180C>T	ENSP00000399263.1:p.Ile60=
ENST00000486981.1:n.196C>T
ENST00000489147.1:n.3070C>T
ENST00000622246.4:c.909C>T	ENSP00000481055.1:p.Ile303=
XM_011510953.1:c.927C>T	XP_011509255.1:p.Ile309=
XM_011510953.2:c.927C>T	XP_011509255.1:p.Ile309=
XM_011510954.1:c.429C>T	XP_011509256.1:p.Ile143=
XR_922903.1:n.1171C>T
XR_922903.2:n.990C>T