Canonical Allele Identifier: CA349894341

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.940C>T MANE Select	NP_055177.2:p.Leu314Phe
ENST00000359678.10:c.940C>T MANE Select	ENSP00000352706.5:p.Leu314Phe
NM_014362.3:c.940C>T	NP_055177.2:p.Leu314Phe
NM_198047.2:c.940C>T	NP_932164.1:p.Leu314Phe
NM_198047.3:c.940C>T	NP_932164.1:p.Leu314Phe
ENST00000359678.9:c.940C>T	ENSP00000352706.5:p.Leu314Phe
ENST00000392332.7:c.940C>T	ENSP00000376144.3:p.Leu314Phe
ENST00000409820.2:c.280C>T	ENSP00000387098.2:p.Leu94Phe
ENST00000410045.5:c.271C>T	ENSP00000386274.1:p.Leu91Phe
ENST00000416732.5:c.193C>T	ENSP00000399263.1:p.Leu65Phe
ENST00000486981.1:n.209C>T
ENST00000489147.1:n.3083C>T
ENST00000622246.4:c.922C>T	ENSP00000481055.1:p.Leu308Phe
XM_011510953.1:c.940C>T	XP_011509255.1:p.Leu314Phe
XM_011510953.2:c.940C>T	XP_011509255.1:p.Leu314Phe
XM_011510954.1:c.442C>T	XP_011509256.1:p.Leu148Phe
XR_922903.1:n.1184C>T
XR_922903.2:n.1003C>T