Canonical Allele Identifier: CA430319109

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069921T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205195T>G , CM000664.2:g.190205195T>G	GRCh38
NC_000002.11:g.191069921T>G , CM000664.1:g.191069921T>G	GRCh37
NC_000002.10:g.190778166T>G	NCBI36
NG_017062.1:g.119851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1083A>C MANE Select	ENSP00000352706.5:p.Pro361=
ENST00000359678.9:c.1083A>C	ENSP00000352706.5:p.Pro361=
ENST00000392332.7:c.*32A>C	ENSP00000376144.3:n.*32A>C
ENST00000399855.2:c.38A>C
ENST00000410045.5:c.414A>C	ENSP00000386274.1:p.Pro138=
ENST00000486981.1:n.318A>C
ENST00000622246.4:c.1065A>C	ENSP00000481055.1:p.Pro355=
NM_014362.3:c.1083A>C	NP_055177.2:p.Pro361=
NM_198047.2:c.*32A>C	NP_932164.1:n.*32A>C
XM_011510953.1:c.1083A>C	XP_011509255.1:p.Pro361=
XM_011510954.1:c.585A>C	XP_011509256.1:p.Pro195=
XR_922903.1:n.1293A>C
XM_011510953.2:c.1083A>C	XP_011509255.1:p.Pro361=
XR_922903.2:n.1112A>C
NM_014362.4:c.1083A>C MANE Select	NP_055177.2:p.Pro361=
NM_198047.3:c.*32A>C	NP_932164.1:n.*32A>C