Canonical Allele Identifier: CA349894344

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213028T>G , CM000664.2:g.190213028T>G	GRCh38
NC_000002.11:g.191077754T>G , CM000664.1:g.191077754T>G	GRCh37
NC_000002.10:g.190785999T>G	NCBI36
NG_017062.1:g.112018A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.939A>C MANE Select	NP_055177.2:p.Gln313His
ENST00000359678.10:c.939A>C MANE Select	ENSP00000352706.5:p.Gln313His
NM_014362.3:c.939A>C	NP_055177.2:p.Gln313His
NM_198047.2:c.939A>C	NP_932164.1:p.Gln313His
NM_198047.3:c.939A>C	NP_932164.1:p.Gln313His
ENST00000359678.9:c.939A>C	ENSP00000352706.5:p.Gln313His
ENST00000392332.7:c.939A>C	ENSP00000376144.3:p.Gln313His
ENST00000409820.2:c.279A>C	ENSP00000387098.2:p.Gln93His
ENST00000410045.5:c.270A>C	ENSP00000386274.1:p.Gln90His
ENST00000416732.5:c.192A>C	ENSP00000399263.1:p.Gln64His
ENST00000486981.1:n.208A>C
ENST00000489147.1:n.3082A>C
ENST00000622246.4:c.921A>C	ENSP00000481055.1:p.Gln307His
XM_011510953.1:c.939A>C	XP_011509255.1:p.Gln313His
XM_011510953.2:c.939A>C	XP_011509255.1:p.Gln313His
XM_011510954.1:c.441A>C	XP_011509256.1:p.Gln147His
XR_922903.1:n.1183A>C
XR_922903.2:n.1002A>C