Canonical Allele Identifier: CA349895340

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190287639C>G , CM000664.2:g.190287639C>G	GRCh38
NC_000002.11:g.191152365C>G , CM000664.1:g.191152365C>G	GRCh37
NC_000002.10:g.190860610C>G	NCBI36
NG_017062.1:g.37407G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.386-1G>C MANE Select	NP_055177.2:n.386-1G>C
ENST00000359678.10:c.386-1G>C MANE Select	ENSP00000352706.5:n.386-1G>C
NM_014362.3:c.386-1G>C	NP_055177.2:n.386-1G>C
NM_198047.2:c.386-1G>C	NP_932164.1:n.386-1G>C
NM_198047.3:c.386-1G>C	NP_932164.1:n.386-1G>C
ENST00000359678.9:c.386-1G>C	ENSP00000352706.5:n.386-1G>C
ENST00000392332.7:c.386-1G>C	ENSP00000376144.3:n.386-1G>C
ENST00000392333.7:c.82-1G>C
ENST00000409934.1:c.548-1G>C	ENSP00000387247.1:n.548-1G>C
ENST00000622246.4:c.371-1G>C	ENSP00000481055.1:n.371-1G>C
XM_011510953.1:c.386-1G>C	XP_011509255.1:n.386-1G>C
XM_011510953.2:c.386-1G>C	XP_011509255.1:n.386-1G>C
XR_922903.1:n.630-1G>C
XR_922903.2:n.449-1G>C