Canonical Allele Identifier: CA349894342

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213027G>T , CM000664.2:g.190213027G>T	GRCh38
NC_000002.11:g.191077753G>T , CM000664.1:g.191077753G>T	GRCh37
NC_000002.10:g.190785998G>T	NCBI36
NG_017062.1:g.112019C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.940C>A MANE Select	NP_055177.2:p.Leu314Ile
ENST00000359678.10:c.940C>A MANE Select	ENSP00000352706.5:p.Leu314Ile
NM_014362.3:c.940C>A	NP_055177.2:p.Leu314Ile
NM_198047.2:c.940C>A	NP_932164.1:p.Leu314Ile
NM_198047.3:c.940C>A	NP_932164.1:p.Leu314Ile
ENST00000359678.9:c.940C>A	ENSP00000352706.5:p.Leu314Ile
ENST00000392332.7:c.940C>A	ENSP00000376144.3:p.Leu314Ile
ENST00000409820.2:c.280C>A	ENSP00000387098.2:p.Leu94Ile
ENST00000410045.5:c.271C>A	ENSP00000386274.1:p.Leu91Ile
ENST00000416732.5:c.193C>A	ENSP00000399263.1:p.Leu65Ile
ENST00000486981.1:n.209C>A
ENST00000489147.1:n.3083C>A
ENST00000622246.4:c.922C>A	ENSP00000481055.1:p.Leu308Ile
XM_011510953.1:c.940C>A	XP_011509255.1:p.Leu314Ile
XM_011510953.2:c.940C>A	XP_011509255.1:p.Leu314Ile
XM_011510954.1:c.442C>A	XP_011509256.1:p.Leu148Ile
XR_922903.1:n.1184C>A
XR_922903.2:n.1003C>A