Canonical Allele Identifier: CA62630090

Gene: HIBCH

Linked Data

• dbSNP Id: rs554673601
• gnomAD v2: 2-191069753-G-A
• gnomAD v3: 2-190205027-G-A
• gnomAD v4: 2-190205027-G-A
• MyVariant Identifiers: chr2:g.191069753G>A (hg19) ; chr2:g.190205027G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205027G>A , CM000664.2:g.190205027G>A	GRCh38
NC_000002.11:g.191069753G>A , CM000664.1:g.191069753G>A	GRCh37
NC_000002.10:g.190777998G>A	NCBI36
NG_017062.1:g.120019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*90C>T MANE Select	ENSP00000352706.5:n.*90C>T
ENST00000359678.9:c.*90C>T	ENSP00000352706.5:n.*90C>T
ENST00000392332.7:c.*200C>T	ENSP00000376144.3:n.*200C>T
ENST00000399855.2:c.133+73C>T
ENST00000410045.5:c.*90C>T	ENSP00000386274.1:n.*90C>T
ENST00000486981.1:n.413+73C>T
ENST00000622246.4:c.*90C>T	ENSP00000481055.1:n.*90C>T
NM_014362.3:c.*90C>T	NP_055177.2:n.*90C>T
NM_198047.2:c.*200C>T	NP_932164.1:n.*200C>T
XM_011510953.1:c.*17+73C>T	XP_011509255.1:n.*17+73C>T
XM_011510954.1:c.*90C>T	XP_011509256.1:n.*90C>T
XR_922903.1:n.1388+73C>T
XM_011510953.2:c.*17+73C>T	XP_011509255.1:n.*17+73C>T
XR_922903.2:n.1207+73C>T
NM_014362.4:c.*90C>T MANE Select	NP_055177.2:n.*90C>T
NM_198047.3:c.*200C>T	NP_932164.1:n.*200C>T