Canonical Allele Identifier: CA2577189860

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205066-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205066G>T , CM000664.2:g.190205066G>T	GRCh38
NC_000002.11:g.191069792G>T , CM000664.1:g.191069792G>T	GRCh37
NC_000002.10:g.190778037G>T	NCBI36
NG_017062.1:g.119980C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.*51C>A MANE Select	ENSP00000352706.5:n.*51C>A
ENST00000359678.9:c.*51C>A	ENSP00000352706.5:n.*51C>A
ENST00000392332.7:c.*161C>A	ENSP00000376144.3:n.*161C>A
ENST00000399855.2:c.133+34C>A
ENST00000410045.5:c.*51C>A	ENSP00000386274.1:n.*51C>A
ENST00000486981.1:n.413+34C>A
ENST00000622246.4:c.*51C>A	ENSP00000481055.1:n.*51C>A
NM_014362.3:c.*51C>A	NP_055177.2:n.*51C>A
NM_198047.2:c.*161C>A	NP_932164.1:n.*161C>A
XM_011510953.1:c.*17+34C>A	XP_011509255.1:n.*17+34C>A
XM_011510954.1:c.*51C>A	XP_011509256.1:n.*51C>A
XR_922903.1:n.1388+34C>A
XM_011510953.2:c.*17+34C>A	XP_011509255.1:n.*17+34C>A
XR_922903.2:n.1207+34C>A
NM_014362.4:c.*51C>A MANE Select	NP_055177.2:n.*51C>A
NM_198047.3:c.*161C>A	NP_932164.1:n.*161C>A