Canonical Allele Identifier: CA538462826

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212935A>T , CM000664.2:g.190212935A>T	GRCh38
NC_000002.11:g.191077661A>T , CM000664.1:g.191077661A>T	GRCh37
NC_000002.10:g.190785906A>T	NCBI36
NG_017062.1:g.112111T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+21T>A MANE Select	NP_055177.2:n.1011+21T>A
ENST00000359678.10:c.1011+21T>A MANE Select	ENSP00000352706.5:n.1011+21T>A
NM_014362.3:c.1011+21T>A	NP_055177.2:n.1011+21T>A
NM_198047.2:c.1011+21T>A	NP_932164.1:n.1011+21T>A
NM_198047.3:c.1011+21T>A	NP_932164.1:n.1011+21T>A
ENST00000359678.9:c.1011+21T>A	ENSP00000352706.5:n.1011+21T>A
ENST00000392332.7:c.1011+21T>A	ENSP00000376144.3:n.1011+21T>A
ENST00000409820.2:c.351+21T>A	ENSP00000387098.2:n.351+21T>A
ENST00000410045.5:c.342+21T>A	ENSP00000386274.1:n.342+21T>A
ENST00000416732.5:c.264+21T>A	ENSP00000399263.1:n.264+21T>A
ENST00000486981.1:n.280+21T>A
ENST00000489147.1:n.3154+21T>A
ENST00000622246.4:c.993+21T>A	ENSP00000481055.1:n.993+21T>A
XM_011510953.1:c.1011+21T>A	XP_011509255.1:n.1011+21T>A
XM_011510953.2:c.1011+21T>A	XP_011509255.1:n.1011+21T>A
XM_011510954.1:c.513+21T>A	XP_011509256.1:n.513+21T>A
XR_922903.1:n.1255+21T>A
XR_922903.2:n.1074+21T>A