Canonical Allele Identifier: CA2971736143

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190212922A>G , CM000664.2:g.190212922A>G	GRCh38
NC_000002.11:g.191077648A>G , CM000664.1:g.191077648A>G	GRCh37
NC_000002.10:g.190785893A>G	NCBI36
NG_017062.1:g.112124T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.1011+34T>C MANE Select	NP_055177.2:n.1011+34T>C
ENST00000359678.10:c.1011+34T>C MANE Select	ENSP00000352706.5:n.1011+34T>C
NM_014362.3:c.1011+34T>C	NP_055177.2:n.1011+34T>C
NM_198047.2:c.1011+34T>C	NP_932164.1:n.1011+34T>C
NM_198047.3:c.1011+34T>C	NP_932164.1:n.1011+34T>C
ENST00000359678.9:c.1011+34T>C	ENSP00000352706.5:n.1011+34T>C
ENST00000392332.7:c.1011+34T>C	ENSP00000376144.3:n.1011+34T>C
ENST00000409820.2:c.351+34T>C	ENSP00000387098.2:n.351+34T>C
ENST00000410045.5:c.342+34T>C	ENSP00000386274.1:n.342+34T>C
ENST00000416732.5:c.264+34T>C	ENSP00000399263.1:n.264+34T>C
ENST00000486981.1:n.280+34T>C
ENST00000489147.1:n.3154+34T>C
ENST00000622246.4:c.993+34T>C	ENSP00000481055.1:n.993+34T>C
XM_011510953.1:c.1011+34T>C	XP_011509255.1:n.1011+34T>C
XM_011510953.2:c.1011+34T>C	XP_011509255.1:n.1011+34T>C
XM_011510954.1:c.513+34T>C	XP_011509256.1:n.513+34T>C
XR_922903.1:n.1255+34T>C
XR_922903.2:n.1074+34T>C