Canonical Allele Identifier: CA349894357

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213035A>T , CM000664.2:g.190213035A>T	GRCh38
NC_000002.11:g.191077761A>T , CM000664.1:g.191077761A>T	GRCh37
NC_000002.10:g.190786006A>T	NCBI36
NG_017062.1:g.112011T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.932T>A MANE Select	NP_055177.2:p.Leu311Gln
ENST00000359678.10:c.932T>A MANE Select	ENSP00000352706.5:p.Leu311Gln
NM_014362.3:c.932T>A	NP_055177.2:p.Leu311Gln
NM_198047.2:c.932T>A	NP_932164.1:p.Leu311Gln
NM_198047.3:c.932T>A	NP_932164.1:p.Leu311Gln
ENST00000359678.9:c.932T>A	ENSP00000352706.5:p.Leu311Gln
ENST00000392332.7:c.932T>A	ENSP00000376144.3:p.Leu311Gln
ENST00000409820.2:c.272T>A	ENSP00000387098.2:p.Leu91Gln
ENST00000410045.5:c.263T>A	ENSP00000386274.1:p.Leu88Gln
ENST00000416732.5:c.185T>A	ENSP00000399263.1:p.Leu62Gln
ENST00000486981.1:n.201T>A
ENST00000489147.1:n.3075T>A
ENST00000622246.4:c.914T>A	ENSP00000481055.1:p.Leu305Gln
XM_011510953.1:c.932T>A	XP_011509255.1:p.Leu311Gln
XM_011510953.2:c.932T>A	XP_011509255.1:p.Leu311Gln
XM_011510954.1:c.434T>A	XP_011509256.1:p.Leu145Gln
XR_922903.1:n.1176T>A
XR_922903.2:n.995T>A