Canonical Allele Identifier: CA2577189849

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205032T>G , CM000664.2:g.190205032T>G	GRCh38
NC_000002.11:g.191069758T>G , CM000664.1:g.191069758T>G	GRCh37
NC_000002.10:g.190778003T>G	NCBI36
NG_017062.1:g.120014A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*85A>C MANE Select	ENSP00000352706.5:n.*85A>C
ENST00000359678.9:c.*85A>C	ENSP00000352706.5:n.*85A>C
ENST00000392332.7:c.*195A>C	ENSP00000376144.3:n.*195A>C
ENST00000399855.2:c.133+68A>C
ENST00000410045.5:c.*85A>C	ENSP00000386274.1:n.*85A>C
ENST00000486981.1:n.413+68A>C
ENST00000622246.4:c.*85A>C	ENSP00000481055.1:n.*85A>C
NM_014362.3:c.*85A>C	NP_055177.2:n.*85A>C
NM_198047.2:c.*195A>C	NP_932164.1:n.*195A>C
XM_011510953.1:c.*17+68A>C	XP_011509255.1:n.*17+68A>C
XM_011510954.1:c.*85A>C	XP_011509256.1:n.*85A>C
XR_922903.1:n.1388+68A>C
XM_011510953.2:c.*17+68A>C	XP_011509255.1:n.*17+68A>C
XR_922903.2:n.1207+68A>C
NM_014362.4:c.*85A>C MANE Select	NP_055177.2:n.*85A>C
NM_198047.3:c.*195A>C	NP_932164.1:n.*195A>C