Canonical Allele Identifier: CA349895281

Gene: HIBCH

Linked Data

• ClinVar Variation Id: 242877
• ClinVar RCV Id: RCV000491605
• dbSNP Id: rs1114167288
• MyVariant Identifiers: chr2:g.191152340G>A (hg19) ; chr2:g.190287614G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190287614G>A , CM000664.2:g.190287614G>A	GRCh38
NC_000002.11:g.191152340G>A , CM000664.1:g.191152340G>A	GRCh37
NC_000002.10:g.190860585G>A	NCBI36
NG_017062.1:g.37432C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.410C>T MANE Select	ENSP00000352706.5:p.Ala137Val
ENST00000359678.9:c.410C>T	ENSP00000352706.5:p.Ala137Val
ENST00000392332.7:c.410C>T	ENSP00000376144.3:p.Ala137Val
ENST00000392333.7:c.106C>T
ENST00000409934.1:c.572C>T	ENSP00000387247.1:p.Ala191Val
ENST00000622246.4:c.395C>T	ENSP00000481055.1:p.Ala132Val
NM_014362.3:c.410C>T	NP_055177.2:p.Ala137Val
NM_198047.2:c.410C>T	NP_932164.1:p.Ala137Val
XM_011510953.1:c.410C>T	XP_011509255.1:p.Ala137Val
XR_922903.1:n.654C>T
XM_011510953.2:c.410C>T	XP_011509255.1:p.Ala137Val
XR_922903.2:n.473C>T
NM_014362.4:c.410C>T MANE Select	NP_055177.2:p.Ala137Val
NM_198047.3:c.410C>T	NP_932164.1:p.Ala137Val