Canonical Allele Identifier: CA349893227

Gene: HIBCH

Linked Data

• dbSNP Id: rs1373779645
• gnomAD v2: 2-191069896-C-T
• gnomAD v4: 2-190205170-C-T
• MyVariant Identifiers: chr2:g.191069896C>T (hg19) ; chr2:g.190205170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205170C>T , CM000664.2:g.190205170C>T	GRCh38
NC_000002.11:g.191069896C>T , CM000664.1:g.191069896C>T	GRCh37
NC_000002.10:g.190778141C>T	NCBI36
NG_017062.1:g.119876G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1108G>A MANE Select	ENSP00000352706.5:p.Glu370Lys
ENST00000359678.9:c.1108G>A	ENSP00000352706.5:p.Glu370Lys
ENST00000392332.7:c.*57G>A	ENSP00000376144.3:n.*57G>A
ENST00000399855.2:c.63G>A
ENST00000410045.5:c.439G>A	ENSP00000386274.1:p.Glu147Lys
ENST00000486981.1:n.343G>A
ENST00000622246.4:c.1090G>A	ENSP00000481055.1:p.Glu364Lys
NM_014362.3:c.1108G>A	NP_055177.2:p.Glu370Lys
NM_198047.2:c.*57G>A	NP_932164.1:n.*57G>A
XM_011510953.1:c.1108G>A	XP_011509255.1:p.Glu370Lys
XM_011510954.1:c.610G>A	XP_011509256.1:p.Glu204Lys
XR_922903.1:n.1318G>A
XM_011510953.2:c.1108G>A	XP_011509255.1:p.Glu370Lys
XR_922903.2:n.1137G>A
NM_014362.4:c.1108G>A MANE Select	NP_055177.2:p.Glu370Lys
NM_198047.3:c.*57G>A	NP_932164.1:n.*57G>A