Canonical Allele Identifier: CA2566470028

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205252A>C , CM000664.2:g.190205252A>C	GRCh38
NC_000002.11:g.191069978A>C , CM000664.1:g.191069978A>C	GRCh37
NC_000002.10:g.190778223A>C	NCBI36
NG_017062.1:g.119794T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1046-20T>G MANE Select	ENSP00000352706.5:n.1046-20T>G
ENST00000359678.9:c.1046-20T>G	ENSP00000352706.5:n.1046-20T>G
ENST00000392332.7:c.1012-20T>G	ENSP00000376144.3:n.1012-20T>G
ENST00000410045.5:c.377-20T>G	ENSP00000386274.1:n.377-20T>G
ENST00000486981.1:n.281-20T>G
ENST00000622246.4:c.1028-20T>G	ENSP00000481055.1:n.1028-20T>G
NM_014362.3:c.1046-20T>G	NP_055177.2:n.1046-20T>G
NM_198047.2:c.1012-20T>G	NP_932164.1:n.1012-20T>G
XM_011510953.1:c.1046-20T>G	XP_011509255.1:n.1046-20T>G
XM_011510954.1:c.548-20T>G	XP_011509256.1:n.548-20T>G
XR_922903.1:n.1256-20T>G
XM_011510953.2:c.1046-20T>G	XP_011509255.1:n.1046-20T>G
XR_922903.2:n.1075-20T>G
NM_014362.4:c.1046-20T>G MANE Select	NP_055177.2:n.1046-20T>G
NM_198047.3:c.1012-20T>G	NP_932164.1:n.1012-20T>G