Canonical Allele Identifier: CA349892994

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205127-A-G
• MyVariant Identifiers: chr2:g.191069853A>G (hg19) ; chr2:g.190205127A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1151T>C MANE Select	ENSP00000352706.5:p.Leu384Ser
ENST00000359678.9:c.1151T>C	ENSP00000352706.5:p.Leu384Ser
ENST00000392332.7:c.*100T>C	ENSP00000376144.3:n.*100T>C
ENST00000399855.2:c.106T>C
ENST00000410045.5:c.482T>C	ENSP00000386274.1:p.Leu161Ser
ENST00000486981.1:n.386T>C
ENST00000622246.4:c.1133T>C	ENSP00000481055.1:p.Leu378Ser
NM_014362.3:c.1151T>C	NP_055177.2:p.Leu384Ser
NM_198047.2:c.*100T>C	NP_932164.1:n.*100T>C
XM_011510953.1:c.1151T>C	XP_011509255.1:p.Leu384Ser
XM_011510954.1:c.653T>C	XP_011509256.1:p.Leu218Ser
XR_922903.1:n.1361T>C
XM_011510953.2:c.1151T>C	XP_011509255.1:p.Leu384Ser
XR_922903.2:n.1180T>C
NM_014362.4:c.1151T>C MANE Select	NP_055177.2:p.Leu384Ser
NM_198047.3:c.*100T>C	NP_932164.1:n.*100T>C