Canonical Allele Identifier: CA349893578

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069948A>C (hg19) ; chr2:g.190205222A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205222A>C , CM000664.2:g.190205222A>C	GRCh38
NC_000002.11:g.191069948A>C , CM000664.1:g.191069948A>C	GRCh37
NC_000002.10:g.190778193A>C	NCBI36
NG_017062.1:g.119824T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1056T>G MANE Select	ENSP00000352706.5:p.Asp352Glu
ENST00000359678.9:c.1056T>G	ENSP00000352706.5:p.Asp352Glu
ENST00000392332.7:c.*5T>G	ENSP00000376144.3:n.*5T>G
ENST00000399855.2:c.11T>G
ENST00000410045.5:c.387T>G	ENSP00000386274.1:p.Asp129Glu
ENST00000486981.1:n.291T>G
ENST00000622246.4:c.1038T>G	ENSP00000481055.1:p.Asp346Glu
NM_014362.3:c.1056T>G	NP_055177.2:p.Asp352Glu
NM_198047.2:c.*5T>G	NP_932164.1:n.*5T>G
XM_011510953.1:c.1056T>G	XP_011509255.1:p.Asp352Glu
XM_011510954.1:c.558T>G	XP_011509256.1:p.Asp186Glu
XR_922903.1:n.1266T>G
XM_011510953.2:c.1056T>G	XP_011509255.1:p.Asp352Glu
XR_922903.2:n.1085T>G
NM_014362.4:c.1056T>G MANE Select	NP_055177.2:p.Asp352Glu
NM_198047.3:c.*5T>G	NP_932164.1:n.*5T>G