Canonical Allele Identifier: CA430320754

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.931C>T MANE Select	NP_055177.2:p.Leu311=
ENST00000359678.10:c.931C>T MANE Select	ENSP00000352706.5:p.Leu311=
NM_014362.3:c.931C>T	NP_055177.2:p.Leu311=
NM_198047.2:c.931C>T	NP_932164.1:p.Leu311=
NM_198047.3:c.931C>T	NP_932164.1:p.Leu311=
ENST00000359678.9:c.931C>T	ENSP00000352706.5:p.Leu311=
ENST00000392332.7:c.931C>T	ENSP00000376144.3:p.Leu311=
ENST00000409820.2:c.271C>T	ENSP00000387098.2:p.Leu91=
ENST00000410045.5:c.262C>T	ENSP00000386274.1:p.Leu88=
ENST00000416732.5:c.184C>T	ENSP00000399263.1:p.Leu62=
ENST00000486981.1:n.200C>T
ENST00000489147.1:n.3074C>T
ENST00000622246.4:c.913C>T	ENSP00000481055.1:p.Leu305=
XM_011510953.1:c.931C>T	XP_011509255.1:p.Leu311=
XM_011510953.2:c.931C>T	XP_011509255.1:p.Leu311=
XM_011510954.1:c.433C>T	XP_011509256.1:p.Leu145=
XR_922903.1:n.1175C>T
XR_922903.2:n.994C>T