Canonical Allele Identifier: CA62630288

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190261185C>A , CM000664.2:g.190261185C>A	GRCh38
NC_000002.11:g.191125911C>A , CM000664.1:g.191125911C>A	GRCh37
NC_000002.10:g.190834156C>A	NCBI36
NG_017062.1:g.63861G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.488G>T MANE Select	ENSP00000352706.5:p.Cys163Phe
ENST00000359678.9:c.488G>T	ENSP00000352706.5:p.Cys163Phe
ENST00000392332.7:c.488G>T	ENSP00000376144.3:p.Cys163Phe
ENST00000392333.7:c.135-8878G>T
ENST00000409934.1:c.650G>T	ENSP00000387247.1:p.Cys217Phe
ENST00000485992.1:n.139-8878G>T
ENST00000489269.5:n.217G>T
ENST00000495792.1:n.464G>T
ENST00000622246.4:c.473G>T	ENSP00000481055.1:p.Cys158Phe
NM_014362.3:c.488G>T	NP_055177.2:p.Cys163Phe
NM_198047.2:c.488G>T	NP_932164.1:p.Cys163Phe
XM_011510953.1:c.488G>T	XP_011509255.1:p.Cys163Phe
XM_011510954.1:c.-11G>T	XP_011509256.1:n.-11G>T
XR_922903.1:n.732G>T
XM_011510953.2:c.488G>T	XP_011509255.1:p.Cys163Phe
XR_922903.2:n.551G>T
NM_014362.4:c.488G>T MANE Select	NP_055177.2:p.Cys163Phe
NM_198047.3:c.488G>T	NP_932164.1:p.Cys163Phe