Canonical Allele Identifier: CA349894365

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.927C>G MANE Select	NP_055177.2:p.Ile309Met
ENST00000359678.10:c.927C>G MANE Select	ENSP00000352706.5:p.Ile309Met
NM_014362.3:c.927C>G	NP_055177.2:p.Ile309Met
NM_198047.2:c.927C>G	NP_932164.1:p.Ile309Met
NM_198047.3:c.927C>G	NP_932164.1:p.Ile309Met
ENST00000359678.9:c.927C>G	ENSP00000352706.5:p.Ile309Met
ENST00000392332.7:c.927C>G	ENSP00000376144.3:p.Ile309Met
ENST00000409820.2:c.267C>G	ENSP00000387098.2:p.Ile89Met
ENST00000410045.5:c.258C>G	ENSP00000386274.1:p.Ile86Met
ENST00000416732.5:c.180C>G	ENSP00000399263.1:p.Ile60Met
ENST00000486981.1:n.196C>G
ENST00000489147.1:n.3070C>G
ENST00000622246.4:c.909C>G	ENSP00000481055.1:p.Ile303Met
XM_011510953.1:c.927C>G	XP_011509255.1:p.Ile309Met
XM_011510953.2:c.927C>G	XP_011509255.1:p.Ile309Met
XM_011510954.1:c.429C>G	XP_011509256.1:p.Ile143Met
XR_922903.1:n.1171C>G
XR_922903.2:n.990C>G