Canonical Allele Identifier: CA2662352982

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205048-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205048G>C , CM000664.2:g.190205048G>C	GRCh38
NC_000002.11:g.191069774G>C , CM000664.1:g.191069774G>C	GRCh37
NC_000002.10:g.190778019G>C	NCBI36
NG_017062.1:g.119998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*69C>G MANE Select	ENSP00000352706.5:n.*69C>G
ENST00000359678.9:c.*69C>G	ENSP00000352706.5:n.*69C>G
ENST00000392332.7:c.*179C>G	ENSP00000376144.3:n.*179C>G
ENST00000399855.2:c.133+52C>G
ENST00000410045.5:c.*69C>G	ENSP00000386274.1:n.*69C>G
ENST00000486981.1:n.413+52C>G
ENST00000622246.4:c.*69C>G	ENSP00000481055.1:n.*69C>G
NM_014362.3:c.*69C>G	NP_055177.2:n.*69C>G
NM_198047.2:c.*179C>G	NP_932164.1:n.*179C>G
XM_011510953.1:c.*17+52C>G	XP_011509255.1:n.*17+52C>G
XM_011510954.1:c.*69C>G	XP_011509256.1:n.*69C>G
XR_922903.1:n.1388+52C>G
XM_011510953.2:c.*17+52C>G	XP_011509255.1:n.*17+52C>G
XR_922903.2:n.1207+52C>G
NM_014362.4:c.*69C>G MANE Select	NP_055177.2:n.*69C>G
NM_198047.3:c.*179C>G	NP_932164.1:n.*179C>G