Canonical Allele Identifier: CA2577189852

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205047-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205047G>T , CM000664.2:g.190205047G>T	GRCh38
NC_000002.11:g.191069773G>T , CM000664.1:g.191069773G>T	GRCh37
NC_000002.10:g.190778018G>T	NCBI36
NG_017062.1:g.119999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*70C>A MANE Select	ENSP00000352706.5:n.*70C>A
ENST00000359678.9:c.*70C>A	ENSP00000352706.5:n.*70C>A
ENST00000392332.7:c.*180C>A	ENSP00000376144.3:n.*180C>A
ENST00000399855.2:c.133+53C>A
ENST00000410045.5:c.*70C>A	ENSP00000386274.1:n.*70C>A
ENST00000486981.1:n.413+53C>A
ENST00000622246.4:c.*70C>A	ENSP00000481055.1:n.*70C>A
NM_014362.3:c.*70C>A	NP_055177.2:n.*70C>A
NM_198047.2:c.*180C>A	NP_932164.1:n.*180C>A
XM_011510953.1:c.*17+53C>A	XP_011509255.1:n.*17+53C>A
XM_011510954.1:c.*70C>A	XP_011509256.1:n.*70C>A
XR_922903.1:n.1388+53C>A
XM_011510953.2:c.*17+53C>A	XP_011509255.1:n.*17+53C>A
XR_922903.2:n.1207+53C>A
NM_014362.4:c.*70C>A MANE Select	NP_055177.2:n.*70C>A
NM_198047.3:c.*180C>A	NP_932164.1:n.*180C>A