Canonical Allele Identifier: CA349893146

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069886T>G (hg19) ; chr2:g.190205160T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205160T>G , CM000664.2:g.190205160T>G	GRCh38
NC_000002.11:g.191069886T>G , CM000664.1:g.191069886T>G	GRCh37
NC_000002.10:g.190778131T>G	NCBI36
NG_017062.1:g.119886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1118A>C MANE Select	ENSP00000352706.5:p.Asn373Thr
ENST00000359678.9:c.1118A>C	ENSP00000352706.5:p.Asn373Thr
ENST00000392332.7:c.*67A>C	ENSP00000376144.3:n.*67A>C
ENST00000399855.2:c.73A>C
ENST00000410045.5:c.449A>C	ENSP00000386274.1:p.Asn150Thr
ENST00000486981.1:n.353A>C
ENST00000622246.4:c.1100A>C	ENSP00000481055.1:p.Asn367Thr
NM_014362.3:c.1118A>C	NP_055177.2:p.Asn373Thr
NM_198047.2:c.*67A>C	NP_932164.1:n.*67A>C
XM_011510953.1:c.1118A>C	XP_011509255.1:p.Asn373Thr
XM_011510954.1:c.620A>C	XP_011509256.1:p.Asn207Thr
XR_922903.1:n.1328A>C
XM_011510953.2:c.1118A>C	XP_011509255.1:p.Asn373Thr
XR_922903.2:n.1147A>C
NM_014362.4:c.1118A>C MANE Select	NP_055177.2:p.Asn373Thr
NM_198047.3:c.*67A>C	NP_932164.1:n.*67A>C