Canonical Allele Identifier: CA349893198

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069892T>G (hg19) ; chr2:g.190205166T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205166T>G , CM000664.2:g.190205166T>G	GRCh38
NC_000002.11:g.191069892T>G , CM000664.1:g.191069892T>G	GRCh37
NC_000002.10:g.190778137T>G	NCBI36
NG_017062.1:g.119880A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1112A>C MANE Select	ENSP00000352706.5:p.Asp371Ala
ENST00000359678.9:c.1112A>C	ENSP00000352706.5:p.Asp371Ala
ENST00000392332.7:c.*61A>C	ENSP00000376144.3:n.*61A>C
ENST00000399855.2:c.67A>C
ENST00000410045.5:c.443A>C	ENSP00000386274.1:p.Asp148Ala
ENST00000486981.1:n.347A>C
ENST00000622246.4:c.1094A>C	ENSP00000481055.1:p.Asp365Ala
NM_014362.3:c.1112A>C	NP_055177.2:p.Asp371Ala
NM_198047.2:c.*61A>C	NP_932164.1:n.*61A>C
XM_011510953.1:c.1112A>C	XP_011509255.1:p.Asp371Ala
XM_011510954.1:c.614A>C	XP_011509256.1:p.Asp205Ala
XR_922903.1:n.1322A>C
XM_011510953.2:c.1112A>C	XP_011509255.1:p.Asp371Ala
XR_922903.2:n.1141A>C
NM_014362.4:c.1112A>C MANE Select	NP_055177.2:p.Asp371Ala
NM_198047.3:c.*61A>C	NP_932164.1:n.*61A>C