Canonical Allele Identifier: CA514812642

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019799A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623793A>C , CM000684.2:g.42623793A>C	GRCh38
NC_000022.10:g.43019799A>C , CM000684.1:g.43019799A>C	GRCh37
NC_000022.9:g.41349743A>C	NCBI36
NG_012194.1:g.30607T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.861T>G	ENSP00000354468.5:p.Pro287=
ENST00000402438.6:c.660T>G	ENSP00000385679.1:p.Pro220=
ENST00000407332.6:c.747T>G	ENSP00000384457.2:p.Pro249=
ENST00000407623.8:c.660T>G	ENSP00000384834.3:p.Pro220=
ENST00000617178.5:c.266T>G
ENST00000684963.1:n.2469T>G
ENST00000685184.1:n.321T>G
ENST00000686523.1:c.*678T>G	ENSP00000508940.1:n.*678T>G
ENST00000687183.1:n.1005T>G
ENST00000687198.1:c.660T>G	ENSP00000508492.1:p.Pro220=
ENST00000688117.1:c.828T>G	ENSP00000509015.1:p.Pro276=
ENST00000688244.1:c.429T>G	ENSP00000510355.1:p.Pro143=
ENST00000689001.1:n.1351T>G
ENST00000689195.1:c.645T>G	ENSP00000509895.1:p.Pro215=
ENST00000689239.1:n.896T>G
ENST00000689795.1:n.990T>G
ENST00000690835.1:c.*108T>G	ENSP00000509038.1:n.*108T>G
ENST00000690993.1:n.1484T>G
ENST00000691295.1:c.*212T>G	ENSP00000508706.1:n.*212T>G
ENST00000691918.1:c.1019T>G	ENSP00000509525.1:n.1019T>G
ENST00000692152.1:c.660T>G	ENSP00000509317.1:p.Pro220=
ENST00000692344.1:n.1216T>G
ENST00000693363.1:c.771T>G	ENSP00000510411.1:p.Pro257=
ENST00000693367.1:c.729T>G	ENSP00000508815.1:p.Pro243=
ENST00000693639.1:c.722T>G	ENSP00000510223.1:n.722T>G
ENST00000693646.1:c.635T>G	ENSP00000508449.1:n.635T>G
ENST00000352397.10:c.729T>G MANE Select	ENSP00000338461.6:p.Pro243=
ENST00000352397.9:c.729T>G	ENSP00000338461.6:p.Pro243=
ENST00000361740.8:c.828T>G	ENSP00000354468.4:p.Pro276=
ENST00000402438.5:c.660T>G	ENSP00000385679.1:p.Pro220=
ENST00000407332.5:c.660T>G	ENSP00000384457.1:p.Pro220=
ENST00000407623.7:c.660T>G	ENSP00000384834.3:p.Pro220=
ENST00000470741.1:n.2863T>G
NM_000398.6:c.729T>G	NP_000389.1:p.Pro243=
NM_001129819.2:c.660T>G	NP_001123291.1:p.Pro220=
NM_001171660.1:c.828T>G	NP_001165131.1:p.Pro276=
NM_001171661.1:c.660T>G	NP_001165132.1:p.Pro220=
NM_007326.4:c.660T>G	NP_015565.1:p.Pro220=
NM_000398.7:c.729T>G MANE Select	NP_000389.1:p.Pro243=
NM_001171660.2:c.828T>G	NP_001165131.1:p.Pro276=