Canonical Allele Identifier: CA349893600

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205226-A-G
• MyVariant Identifiers: chr2:g.191069952A>G (hg19) ; chr2:g.190205226A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205226A>G , CM000664.2:g.190205226A>G	GRCh38
NC_000002.11:g.191069952A>G , CM000664.1:g.191069952A>G	GRCh37
NC_000002.10:g.190778197A>G	NCBI36
NG_017062.1:g.119820T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1052T>C MANE Select	ENSP00000352706.5:p.Ile351Thr
ENST00000359678.9:c.1052T>C	ENSP00000352706.5:p.Ile351Thr
ENST00000392332.7:c.*1T>C	ENSP00000376144.3:n.*1T>C
ENST00000399855.2:c.7T>C
ENST00000410045.5:c.383T>C	ENSP00000386274.1:p.Ile128Thr
ENST00000486981.1:n.287T>C
ENST00000622246.4:c.1034T>C	ENSP00000481055.1:p.Ile345Thr
NM_014362.3:c.1052T>C	NP_055177.2:p.Ile351Thr
NM_198047.2:c.*1T>C	NP_932164.1:n.*1T>C
XM_011510953.1:c.1052T>C	XP_011509255.1:p.Ile351Thr
XM_011510954.1:c.554T>C	XP_011509256.1:p.Ile185Thr
XR_922903.1:n.1262T>C
XM_011510953.2:c.1052T>C	XP_011509255.1:p.Ile351Thr
XR_922903.2:n.1081T>C
NM_014362.4:c.1052T>C MANE Select	NP_055177.2:p.Ile351Thr
NM_198047.3:c.*1T>C	NP_932164.1:n.*1T>C