Canonical Allele Identifier: CA349894359

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213036G>T , CM000664.2:g.190213036G>T	GRCh38
NC_000002.11:g.191077762G>T , CM000664.1:g.191077762G>T	GRCh37
NC_000002.10:g.190786007G>T	NCBI36
NG_017062.1:g.112010C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.931C>A MANE Select	NP_055177.2:p.Leu311Ile
ENST00000359678.10:c.931C>A MANE Select	ENSP00000352706.5:p.Leu311Ile
NM_014362.3:c.931C>A	NP_055177.2:p.Leu311Ile
NM_198047.2:c.931C>A	NP_932164.1:p.Leu311Ile
NM_198047.3:c.931C>A	NP_932164.1:p.Leu311Ile
ENST00000359678.9:c.931C>A	ENSP00000352706.5:p.Leu311Ile
ENST00000392332.7:c.931C>A	ENSP00000376144.3:p.Leu311Ile
ENST00000409820.2:c.271C>A	ENSP00000387098.2:p.Leu91Ile
ENST00000410045.5:c.262C>A	ENSP00000386274.1:p.Leu88Ile
ENST00000416732.5:c.184C>A	ENSP00000399263.1:p.Leu62Ile
ENST00000486981.1:n.200C>A
ENST00000489147.1:n.3074C>A
ENST00000622246.4:c.913C>A	ENSP00000481055.1:p.Leu305Ile
XM_011510953.1:c.931C>A	XP_011509255.1:p.Leu311Ile
XM_011510953.2:c.931C>A	XP_011509255.1:p.Leu311Ile
XM_011510954.1:c.433C>A	XP_011509256.1:p.Leu145Ile
XR_922903.1:n.1175C>A
XR_922903.2:n.994C>A