Canonical Allele Identifier: CA914527859

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212936T>A , CM000664.2:g.190212936T>A	GRCh38
NC_000002.11:g.191077662T>A , CM000664.1:g.191077662T>A	GRCh37
NC_000002.10:g.190785907T>A	NCBI36
NG_017062.1:g.112110A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+20A>T MANE Select	NP_055177.2:n.1011+20A>T
ENST00000359678.10:c.1011+20A>T MANE Select	ENSP00000352706.5:n.1011+20A>T
NM_014362.3:c.1011+20A>T	NP_055177.2:n.1011+20A>T
NM_198047.2:c.1011+20A>T	NP_932164.1:n.1011+20A>T
NM_198047.3:c.1011+20A>T	NP_932164.1:n.1011+20A>T
ENST00000359678.9:c.1011+20A>T	ENSP00000352706.5:n.1011+20A>T
ENST00000392332.7:c.1011+20A>T	ENSP00000376144.3:n.1011+20A>T
ENST00000409820.2:c.351+20A>T	ENSP00000387098.2:n.351+20A>T
ENST00000410045.5:c.342+20A>T	ENSP00000386274.1:n.342+20A>T
ENST00000416732.5:c.264+20A>T	ENSP00000399263.1:n.264+20A>T
ENST00000486981.1:n.280+20A>T
ENST00000489147.1:n.3154+20A>T
ENST00000622246.4:c.993+20A>T	ENSP00000481055.1:n.993+20A>T
XM_011510953.1:c.1011+20A>T	XP_011509255.1:n.1011+20A>T
XM_011510953.2:c.1011+20A>T	XP_011509255.1:n.1011+20A>T
XM_011510954.1:c.513+20A>T	XP_011509256.1:n.513+20A>T
XR_922903.1:n.1255+20A>T
XR_922903.2:n.1074+20A>T