Canonical Allele Identifier: CA349894353

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213032C>G , CM000664.2:g.190213032C>G	GRCh38
NC_000002.11:g.191077758C>G , CM000664.1:g.191077758C>G	GRCh37
NC_000002.10:g.190786003C>G	NCBI36
NG_017062.1:g.112014G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.935G>C MANE Select	NP_055177.2:p.Arg312Thr
ENST00000359678.10:c.935G>C MANE Select	ENSP00000352706.5:p.Arg312Thr
NM_014362.3:c.935G>C	NP_055177.2:p.Arg312Thr
NM_198047.2:c.935G>C	NP_932164.1:p.Arg312Thr
NM_198047.3:c.935G>C	NP_932164.1:p.Arg312Thr
ENST00000359678.9:c.935G>C	ENSP00000352706.5:p.Arg312Thr
ENST00000392332.7:c.935G>C	ENSP00000376144.3:p.Arg312Thr
ENST00000409820.2:c.275G>C	ENSP00000387098.2:p.Arg92Thr
ENST00000410045.5:c.266G>C	ENSP00000386274.1:p.Arg89Thr
ENST00000416732.5:c.188G>C	ENSP00000399263.1:p.Arg63Thr
ENST00000486981.1:n.204G>C
ENST00000489147.1:n.3078G>C
ENST00000622246.4:c.917G>C	ENSP00000481055.1:p.Arg306Thr
XM_011510953.1:c.935G>C	XP_011509255.1:p.Arg312Thr
XM_011510953.2:c.935G>C	XP_011509255.1:p.Arg312Thr
XM_011510954.1:c.437G>C	XP_011509256.1:p.Arg146Thr
XR_922903.1:n.1179G>C
XR_922903.2:n.998G>C