Canonical Allele Identifier: CA349893463

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069931T>A (hg19) ; chr2:g.190205205T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205205T>A , CM000664.2:g.190205205T>A	GRCh38
NC_000002.11:g.191069931T>A , CM000664.1:g.191069931T>A	GRCh37
NC_000002.10:g.190778176T>A	NCBI36
NG_017062.1:g.119841A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1073A>T MANE Select	ENSP00000352706.5:p.Lys358Ile
ENST00000359678.9:c.1073A>T	ENSP00000352706.5:p.Lys358Ile
ENST00000392332.7:c.*22A>T	ENSP00000376144.3:n.*22A>T
ENST00000399855.2:c.28A>T
ENST00000410045.5:c.404A>T	ENSP00000386274.1:p.Lys135Ile
ENST00000486981.1:n.308A>T
ENST00000622246.4:c.1055A>T	ENSP00000481055.1:p.Lys352Ile
NM_014362.3:c.1073A>T	NP_055177.2:p.Lys358Ile
NM_198047.2:c.*22A>T	NP_932164.1:n.*22A>T
XM_011510953.1:c.1073A>T	XP_011509255.1:p.Lys358Ile
XM_011510954.1:c.575A>T	XP_011509256.1:p.Lys192Ile
XR_922903.1:n.1283A>T
XM_011510953.2:c.1073A>T	XP_011509255.1:p.Lys358Ile
XR_922903.2:n.1102A>T
NM_014362.4:c.1073A>T MANE Select	NP_055177.2:p.Lys358Ile
NM_198047.3:c.*22A>T	NP_932164.1:n.*22A>T