Canonical Allele Identifier: CA430320747

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213033T>G , CM000664.2:g.190213033T>G	GRCh38
NC_000002.11:g.191077759T>G , CM000664.1:g.191077759T>G	GRCh37
NC_000002.10:g.190786004T>G	NCBI36
NG_017062.1:g.112013A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.934A>C MANE Select	NP_055177.2:p.Arg312=
ENST00000359678.10:c.934A>C MANE Select	ENSP00000352706.5:p.Arg312=
NM_014362.3:c.934A>C	NP_055177.2:p.Arg312=
NM_198047.2:c.934A>C	NP_932164.1:p.Arg312=
NM_198047.3:c.934A>C	NP_932164.1:p.Arg312=
ENST00000359678.9:c.934A>C	ENSP00000352706.5:p.Arg312=
ENST00000392332.7:c.934A>C	ENSP00000376144.3:p.Arg312=
ENST00000409820.2:c.274A>C	ENSP00000387098.2:p.Arg92=
ENST00000410045.5:c.265A>C	ENSP00000386274.1:p.Arg89=
ENST00000416732.5:c.187A>C	ENSP00000399263.1:p.Arg63=
ENST00000486981.1:n.203A>C
ENST00000489147.1:n.3077A>C
ENST00000622246.4:c.916A>C	ENSP00000481055.1:p.Arg306=
XM_011510953.1:c.934A>C	XP_011509255.1:p.Arg312=
XM_011510953.2:c.934A>C	XP_011509255.1:p.Arg312=
XM_011510954.1:c.436A>C	XP_011509256.1:p.Arg146=
XR_922903.1:n.1178A>C
XR_922903.2:n.997A>C