Canonical Allele Identifier: CA538467249

Gene: HIBCH

Linked Data

• dbSNP Id: rs1458209691
• gnomAD v2: 2-191112946-G-A
• gnomAD v3: 2-190248220-G-A
• gnomAD v4: 2-190248220-G-A
• MyVariant Identifiers: chr2:g.191112946G>A (hg19) ; chr2:g.190248220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190248220G>A , CM000664.2:g.190248220G>A	GRCh38
NC_000002.11:g.191112946G>A , CM000664.1:g.191112946G>A	GRCh37
NC_000002.10:g.190821191G>A	NCBI36
NG_017062.1:g.76826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.750+1420C>T MANE Select	ENSP00000352706.5:n.750+1420C>T
ENST00000359678.9:c.750+1420C>T	ENSP00000352706.5:n.750+1420C>T
ENST00000392332.7:c.750+1420C>T	ENSP00000376144.3:n.750+1420C>T
ENST00000392333.7:c.367+1420C>T
ENST00000409820.2:c.90+1420C>T	ENSP00000387098.2:n.90+1420C>T
ENST00000410045.5:c.81+1420C>T	ENSP00000386274.1:n.81+1420C>T
ENST00000485992.1:n.371+1420C>T
ENST00000622246.4:c.732+1420C>T	ENSP00000481055.1:n.732+1420C>T
NM_014362.3:c.750+1420C>T	NP_055177.2:n.750+1420C>T
NM_198047.2:c.750+1420C>T	NP_932164.1:n.750+1420C>T
XM_011510953.1:c.750+1420C>T	XP_011509255.1:n.750+1420C>T
XM_011510954.1:c.252+1420C>T	XP_011509256.1:n.252+1420C>T
XR_922903.1:n.994+1420C>T
XM_011510953.2:c.750+1420C>T	XP_011509255.1:n.750+1420C>T
XR_922903.2:n.813+1420C>T
NM_014362.4:c.750+1420C>T MANE Select	NP_055177.2:n.750+1420C>T
NM_198047.3:c.750+1420C>T	NP_932164.1:n.750+1420C>T