Canonical Allele Identifier: CA349894350

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213031C>A , CM000664.2:g.190213031C>A	GRCh38
NC_000002.11:g.191077757C>A , CM000664.1:g.191077757C>A	GRCh37
NC_000002.10:g.190786002C>A	NCBI36
NG_017062.1:g.112015G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.936G>T MANE Select	NP_055177.2:p.Arg312Ser
ENST00000359678.10:c.936G>T MANE Select	ENSP00000352706.5:p.Arg312Ser
NM_014362.3:c.936G>T	NP_055177.2:p.Arg312Ser
NM_198047.2:c.936G>T	NP_932164.1:p.Arg312Ser
NM_198047.3:c.936G>T	NP_932164.1:p.Arg312Ser
ENST00000359678.9:c.936G>T	ENSP00000352706.5:p.Arg312Ser
ENST00000392332.7:c.936G>T	ENSP00000376144.3:p.Arg312Ser
ENST00000409820.2:c.276G>T	ENSP00000387098.2:p.Arg92Ser
ENST00000410045.5:c.267G>T	ENSP00000386274.1:p.Arg89Ser
ENST00000416732.5:c.189G>T	ENSP00000399263.1:p.Arg63Ser
ENST00000486981.1:n.205G>T
ENST00000489147.1:n.3079G>T
ENST00000622246.4:c.918G>T	ENSP00000481055.1:p.Arg306Ser
XM_011510953.1:c.936G>T	XP_011509255.1:p.Arg312Ser
XM_011510953.2:c.936G>T	XP_011509255.1:p.Arg312Ser
XM_011510954.1:c.438G>T	XP_011509256.1:p.Arg146Ser
XR_922903.1:n.1180G>T
XR_922903.2:n.999G>T