Canonical Allele Identifier: CA349894322

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213018C>A , CM000664.2:g.190213018C>A	GRCh38
NC_000002.11:g.191077744C>A , CM000664.1:g.191077744C>A	GRCh37
NC_000002.10:g.190785989C>A	NCBI36
NG_017062.1:g.112028G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.949G>T MANE Select	NP_055177.2:p.Gly317Trp
ENST00000359678.10:c.949G>T MANE Select	ENSP00000352706.5:p.Gly317Trp
NM_014362.3:c.949G>T	NP_055177.2:p.Gly317Trp
NM_198047.2:c.949G>T	NP_932164.1:p.Gly317Trp
NM_198047.3:c.949G>T	NP_932164.1:p.Gly317Trp
ENST00000359678.9:c.949G>T	ENSP00000352706.5:p.Gly317Trp
ENST00000392332.7:c.949G>T	ENSP00000376144.3:p.Gly317Trp
ENST00000409820.2:c.289G>T	ENSP00000387098.2:p.Gly97Trp
ENST00000410045.5:c.280G>T	ENSP00000386274.1:p.Gly94Trp
ENST00000416732.5:c.202G>T	ENSP00000399263.1:p.Gly68Trp
ENST00000486981.1:n.218G>T
ENST00000489147.1:n.3092G>T
ENST00000622246.4:c.931G>T	ENSP00000481055.1:p.Gly311Trp
XM_011510953.1:c.949G>T	XP_011509255.1:p.Gly317Trp
XM_011510953.2:c.949G>T	XP_011509255.1:p.Gly317Trp
XM_011510954.1:c.451G>T	XP_011509256.1:p.Gly151Trp
XR_922903.1:n.1193G>T
XR_922903.2:n.1012G>T