Canonical Allele Identifier: CA2662352984

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205049-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205049C>A , CM000664.2:g.190205049C>A	GRCh38
NC_000002.11:g.191069775C>A , CM000664.1:g.191069775C>A	GRCh37
NC_000002.10:g.190778020C>A	NCBI36
NG_017062.1:g.119997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*68G>T MANE Select	ENSP00000352706.5:n.*68G>T
ENST00000359678.9:c.*68G>T	ENSP00000352706.5:n.*68G>T
ENST00000392332.7:c.*178G>T	ENSP00000376144.3:n.*178G>T
ENST00000399855.2:c.133+51G>T
ENST00000410045.5:c.*68G>T	ENSP00000386274.1:n.*68G>T
ENST00000486981.1:n.413+51G>T
ENST00000622246.4:c.*68G>T	ENSP00000481055.1:n.*68G>T
NM_014362.3:c.*68G>T	NP_055177.2:n.*68G>T
NM_198047.2:c.*178G>T	NP_932164.1:n.*178G>T
XM_011510953.1:c.*17+51G>T	XP_011509255.1:n.*17+51G>T
XM_011510954.1:c.*68G>T	XP_011509256.1:n.*68G>T
XR_922903.1:n.1388+51G>T
XM_011510953.2:c.*17+51G>T	XP_011509255.1:n.*17+51G>T
XR_922903.2:n.1207+51G>T
NM_014362.4:c.*68G>T MANE Select	NP_055177.2:n.*68G>T
NM_198047.3:c.*178G>T	NP_932164.1:n.*178G>T