Canonical Allele Identifier: CA349894349

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213030G>T , CM000664.2:g.190213030G>T	GRCh38
NC_000002.11:g.191077756G>T , CM000664.1:g.191077756G>T	GRCh37
NC_000002.10:g.190786001G>T	NCBI36
NG_017062.1:g.112016C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.937C>A MANE Select	NP_055177.2:p.Gln313Lys
ENST00000359678.10:c.937C>A MANE Select	ENSP00000352706.5:p.Gln313Lys
NM_014362.3:c.937C>A	NP_055177.2:p.Gln313Lys
NM_198047.2:c.937C>A	NP_932164.1:p.Gln313Lys
NM_198047.3:c.937C>A	NP_932164.1:p.Gln313Lys
ENST00000359678.9:c.937C>A	ENSP00000352706.5:p.Gln313Lys
ENST00000392332.7:c.937C>A	ENSP00000376144.3:p.Gln313Lys
ENST00000409820.2:c.277C>A	ENSP00000387098.2:p.Gln93Lys
ENST00000410045.5:c.268C>A	ENSP00000386274.1:p.Gln90Lys
ENST00000416732.5:c.190C>A	ENSP00000399263.1:p.Gln64Lys
ENST00000486981.1:n.206C>A
ENST00000489147.1:n.3080C>A
ENST00000622246.4:c.919C>A	ENSP00000481055.1:p.Gln307Lys
XM_011510953.1:c.937C>A	XP_011509255.1:p.Gln313Lys
XM_011510953.2:c.937C>A	XP_011509255.1:p.Gln313Lys
XM_011510954.1:c.439C>A	XP_011509256.1:p.Gln147Lys
XR_922903.1:n.1181C>A
XR_922903.2:n.1000C>A