Canonical Allele Identifier: CA62630101

Gene: HIBCH

Linked Data

• dbSNP Id: rs1029949863
• MyVariant Identifiers: chr2:g.191069756T>C (hg19) ; chr2:g.190205030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205030T>C , CM000664.2:g.190205030T>C	GRCh38
NC_000002.11:g.191069756T>C , CM000664.1:g.191069756T>C	GRCh37
NC_000002.10:g.190778001T>C	NCBI36
NG_017062.1:g.120016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*87A>G MANE Select	ENSP00000352706.5:n.*87A>G
ENST00000359678.9:c.*87A>G	ENSP00000352706.5:n.*87A>G
ENST00000392332.7:c.*197A>G	ENSP00000376144.3:n.*197A>G
ENST00000399855.2:c.133+70A>G
ENST00000410045.5:c.*87A>G	ENSP00000386274.1:n.*87A>G
ENST00000486981.1:n.413+70A>G
ENST00000622246.4:c.*87A>G	ENSP00000481055.1:n.*87A>G
NM_014362.3:c.*87A>G	NP_055177.2:n.*87A>G
NM_198047.2:c.*197A>G	NP_932164.1:n.*197A>G
XM_011510953.1:c.*17+70A>G	XP_011509255.1:n.*17+70A>G
XM_011510954.1:c.*87A>G	XP_011509256.1:n.*87A>G
XR_922903.1:n.1388+70A>G
XM_011510953.2:c.*17+70A>G	XP_011509255.1:n.*17+70A>G
XR_922903.2:n.1207+70A>G
NM_014362.4:c.*87A>G MANE Select	NP_055177.2:n.*87A>G
NM_198047.3:c.*197A>G	NP_932164.1:n.*197A>G