Canonical Allele Identifier: CA349892996

Gene: HIBCH

Linked Data

• dbSNP Id: rs2105894839
• MyVariant Identifiers: chr2:g.191069853A>T (hg19) ; chr2:g.190205127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205127A>T , CM000664.2:g.190205127A>T	GRCh38
NC_000002.11:g.191069853A>T , CM000664.1:g.191069853A>T	GRCh37
NC_000002.10:g.190778098A>T	NCBI36
NG_017062.1:g.119919T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1151T>A MANE Select	ENSP00000352706.5:p.Leu384Ter
ENST00000359678.9:c.1151T>A	ENSP00000352706.5:p.Leu384Ter
ENST00000392332.7:c.*100T>A	ENSP00000376144.3:n.*100T>A
ENST00000399855.2:c.106T>A
ENST00000410045.5:c.482T>A	ENSP00000386274.1:p.Leu161Ter
ENST00000486981.1:n.386T>A
ENST00000622246.4:c.1133T>A	ENSP00000481055.1:p.Leu378Ter
NM_014362.3:c.1151T>A	NP_055177.2:p.Leu384Ter
NM_198047.2:c.*100T>A	NP_932164.1:n.*100T>A
XM_011510953.1:c.1151T>A	XP_011509255.1:p.Leu384Ter
XM_011510954.1:c.653T>A	XP_011509256.1:p.Leu218Ter
XR_922903.1:n.1361T>A
XM_011510953.2:c.1151T>A	XP_011509255.1:p.Leu384Ter
XR_922903.2:n.1180T>A
NM_014362.4:c.1151T>A MANE Select	NP_055177.2:p.Leu384Ter
NM_198047.3:c.*100T>A	NP_932164.1:n.*100T>A