Canonical Allele Identifier: CA199654

Gene: HIBCH

Linked Data

• ClinVar Variation Id: 190268
• ClinVar RCV Id: RCV000170481
• dbSNP Id: rs757976755
• ExAC: 2:191161562 G / A
• gnomAD v2: 2-191161562-G-A
• gnomAD v4: 2-190296836-G-A
• MyVariant Identifiers: chr2:g.191161562G>A (hg19) ; chr2:g.190296836G>A (hg38)
• PubMed: PMID:26026795

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190296836G>A , CM000664.2:g.190296836G>A	GRCh38
NC_000002.11:g.191161562G>A , CM000664.1:g.191161562G>A	GRCh37
NC_000002.10:g.190869807G>A	NCBI36
NG_017062.1:g.28210C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.196C>T MANE Select	ENSP00000352706.5:p.Arg66Trp
ENST00000359678.9:c.196C>T	ENSP00000352706.5:p.Arg66Trp
ENST00000392332.7:c.196C>T	ENSP00000376144.3:p.Arg66Trp
ENST00000409934.1:c.358C>T	ENSP00000387247.1:p.Arg120Trp
ENST00000622246.4:c.181C>T	ENSP00000481055.1:p.Arg61Trp
NM_014362.3:c.196C>T	NP_055177.2:p.Arg66Trp
NM_198047.2:c.196C>T	NP_932164.1:p.Arg66Trp
XM_011510953.1:c.196C>T	XP_011509255.1:p.Arg66Trp
XR_922903.1:n.440C>T
XM_011510953.2:c.196C>T	XP_011509255.1:p.Arg66Trp
XR_922903.2:n.259C>T
NM_014362.4:c.196C>T MANE Select	NP_055177.2:p.Arg66Trp
NM_198047.3:c.196C>T	NP_932164.1:p.Arg66Trp