Canonical Allele Identifier: CA349892944

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069843T>A (hg19) ; chr2:g.190205117T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205117T>A , CM000664.2:g.190205117T>A	GRCh38
NC_000002.11:g.191069843T>A , CM000664.1:g.191069843T>A	GRCh37
NC_000002.10:g.190778088T>A	NCBI36
NG_017062.1:g.119929A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1161A>T MANE Select	ENSP00000352706.5:p.Ter387Cys
ENST00000359678.9:c.1161A>T	ENSP00000352706.5:p.Ter387Cys
ENST00000392332.7:c.*110A>T	ENSP00000376144.3:n.*110A>T
ENST00000399855.2:c.116A>T
ENST00000410045.5:c.492A>T	ENSP00000386274.1:p.Ter164Cys
ENST00000486981.1:n.396A>T
ENST00000622246.4:c.1143A>T	ENSP00000481055.1:p.Ter381Cys
NM_014362.3:c.1161A>T	NP_055177.2:p.Ter387Cys
NM_198047.2:c.*110A>T	NP_932164.1:n.*110A>T
XM_011510953.1:c.1161A>T	XP_011509255.1:p.Ter387Cys
XM_011510954.1:c.663A>T	XP_011509256.1:p.Ter221Cys
XR_922903.1:n.1371A>T
XM_011510953.2:c.1161A>T	XP_011509255.1:p.Ter387Cys
XR_922903.2:n.1190A>T
NM_014362.4:c.1161A>T MANE Select	NP_055177.2:p.Ter387Cys
NM_198047.3:c.*110A>T	NP_932164.1:n.*110A>T