Canonical Allele Identifier: CA2577189850

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205033A>G , CM000664.2:g.190205033A>G	GRCh38
NC_000002.11:g.191069759A>G , CM000664.1:g.191069759A>G	GRCh37
NC_000002.10:g.190778004A>G	NCBI36
NG_017062.1:g.120013T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.*84T>C MANE Select	ENSP00000352706.5:n.*84T>C
ENST00000359678.9:c.*84T>C	ENSP00000352706.5:n.*84T>C
ENST00000392332.7:c.*194T>C	ENSP00000376144.3:n.*194T>C
ENST00000399855.2:c.133+67T>C
ENST00000410045.5:c.*84T>C	ENSP00000386274.1:n.*84T>C
ENST00000486981.1:n.413+67T>C
ENST00000622246.4:c.*84T>C	ENSP00000481055.1:n.*84T>C
NM_014362.3:c.*84T>C	NP_055177.2:n.*84T>C
NM_198047.2:c.*194T>C	NP_932164.1:n.*194T>C
XM_011510953.1:c.*17+67T>C	XP_011509255.1:n.*17+67T>C
XM_011510954.1:c.*84T>C	XP_011509256.1:n.*84T>C
XR_922903.1:n.1388+67T>C
XM_011510953.2:c.*17+67T>C	XP_011509255.1:n.*17+67T>C
XR_922903.2:n.1207+67T>C
NM_014362.4:c.*84T>C MANE Select	NP_055177.2:n.*84T>C
NM_198047.3:c.*194T>C	NP_932164.1:n.*194T>C