Canonical Allele Identifier: CA2027428

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.935G>A MANE Select	NP_055177.2:p.Arg312Lys
ENST00000359678.10:c.935G>A MANE Select	ENSP00000352706.5:p.Arg312Lys
NM_014362.3:c.935G>A	NP_055177.2:p.Arg312Lys
NM_198047.2:c.935G>A	NP_932164.1:p.Arg312Lys
NM_198047.3:c.935G>A	NP_932164.1:p.Arg312Lys
ENST00000359678.9:c.935G>A	ENSP00000352706.5:p.Arg312Lys
ENST00000392332.7:c.935G>A	ENSP00000376144.3:p.Arg312Lys
ENST00000409820.2:c.275G>A	ENSP00000387098.2:p.Arg92Lys
ENST00000410045.5:c.266G>A	ENSP00000386274.1:p.Arg89Lys
ENST00000416732.5:c.188G>A	ENSP00000399263.1:p.Arg63Lys
ENST00000486981.1:n.204G>A
ENST00000489147.1:n.3078G>A
ENST00000622246.4:c.917G>A	ENSP00000481055.1:p.Arg306Lys
XM_011510953.1:c.935G>A	XP_011509255.1:p.Arg312Lys
XM_011510953.2:c.935G>A	XP_011509255.1:p.Arg312Lys
XM_011510954.1:c.437G>A	XP_011509256.1:p.Arg146Lys
XR_922903.1:n.1179G>A
XR_922903.2:n.998G>A