Canonical Allele Identifier: CA349894337

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213024T>A , CM000664.2:g.190213024T>A	GRCh38
NC_000002.11:g.191077750T>A , CM000664.1:g.191077750T>A	GRCh37
NC_000002.10:g.190785995T>A	NCBI36
NG_017062.1:g.112022A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.943A>T MANE Select	NP_055177.2:p.Met315Leu
ENST00000359678.10:c.943A>T MANE Select	ENSP00000352706.5:p.Met315Leu
NM_014362.3:c.943A>T	NP_055177.2:p.Met315Leu
NM_198047.2:c.943A>T	NP_932164.1:p.Met315Leu
NM_198047.3:c.943A>T	NP_932164.1:p.Met315Leu
ENST00000359678.9:c.943A>T	ENSP00000352706.5:p.Met315Leu
ENST00000392332.7:c.943A>T	ENSP00000376144.3:p.Met315Leu
ENST00000409820.2:c.283A>T	ENSP00000387098.2:p.Met95Leu
ENST00000410045.5:c.274A>T	ENSP00000386274.1:p.Met92Leu
ENST00000416732.5:c.196A>T	ENSP00000399263.1:p.Met66Leu
ENST00000486981.1:n.212A>T
ENST00000489147.1:n.3086A>T
ENST00000622246.4:c.925A>T	ENSP00000481055.1:p.Met309Leu
XM_011510953.1:c.943A>T	XP_011509255.1:p.Met315Leu
XM_011510953.2:c.943A>T	XP_011509255.1:p.Met315Leu
XM_011510954.1:c.445A>T	XP_011509256.1:p.Met149Leu
XR_922903.1:n.1187A>T
XR_922903.2:n.1006A>T