Canonical Allele Identifier: CA2662352991

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205064-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205064A>G , CM000664.2:g.190205064A>G	GRCh38
NC_000002.11:g.191069790A>G , CM000664.1:g.191069790A>G	GRCh37
NC_000002.10:g.190778035A>G	NCBI36
NG_017062.1:g.119982T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.*53T>C MANE Select	ENSP00000352706.5:n.*53T>C
ENST00000359678.9:c.*53T>C	ENSP00000352706.5:n.*53T>C
ENST00000392332.7:c.*163T>C	ENSP00000376144.3:n.*163T>C
ENST00000399855.2:c.133+36T>C
ENST00000410045.5:c.*53T>C	ENSP00000386274.1:n.*53T>C
ENST00000486981.1:n.413+36T>C
ENST00000622246.4:c.*53T>C	ENSP00000481055.1:n.*53T>C
NM_014362.3:c.*53T>C	NP_055177.2:n.*53T>C
NM_198047.2:c.*163T>C	NP_932164.1:n.*163T>C
XM_011510953.1:c.*17+36T>C	XP_011509255.1:n.*17+36T>C
XM_011510954.1:c.*53T>C	XP_011509256.1:n.*53T>C
XR_922903.1:n.1388+36T>C
XM_011510953.2:c.*17+36T>C	XP_011509255.1:n.*17+36T>C
XR_922903.2:n.1207+36T>C
NM_014362.4:c.*53T>C MANE Select	NP_055177.2:n.*53T>C
NM_198047.3:c.*163T>C	NP_932164.1:n.*163T>C