Canonical Allele Identifier: CA514812898

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623838-T-C
• MyVariant Identifiers: chr22:g.43019844T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623838T>C , CM000684.2:g.42623838T>C	GRCh38
NC_000022.10:g.43019844T>C , CM000684.1:g.43019844T>C	GRCh37
NC_000022.9:g.41349788T>C	NCBI36
NG_012194.1:g.30562A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.816A>G	ENSP00000354468.5:p.Lys272=
ENST00000402438.6:c.615A>G	ENSP00000385679.1:p.Lys205=
ENST00000407332.6:c.702A>G	ENSP00000384457.2:p.Lys234=
ENST00000407623.8:c.615A>G	ENSP00000384834.3:p.Lys205=
ENST00000617178.5:c.221A>G
ENST00000684963.1:n.2424A>G
ENST00000685184.1:n.276A>G
ENST00000686523.1:c.*633A>G	ENSP00000508940.1:n.*633A>G
ENST00000687183.1:n.960A>G
ENST00000687198.1:c.615A>G	ENSP00000508492.1:p.Lys205=
ENST00000688117.1:c.783A>G	ENSP00000509015.1:p.Lys261=
ENST00000688244.1:c.384A>G	ENSP00000510355.1:p.Lys128=
ENST00000689001.1:n.1306A>G
ENST00000689195.1:c.600A>G	ENSP00000509895.1:p.Lys200=
ENST00000689239.1:n.851A>G
ENST00000689795.1:n.945A>G
ENST00000690835.1:c.*63A>G	ENSP00000509038.1:n.*63A>G
ENST00000690993.1:n.1439A>G
ENST00000691295.1:c.*167A>G	ENSP00000508706.1:n.*167A>G
ENST00000691918.1:c.974A>G	ENSP00000509525.1:n.974A>G
ENST00000692152.1:c.615A>G	ENSP00000509317.1:p.Lys205=
ENST00000692344.1:n.1171A>G
ENST00000693363.1:c.726A>G	ENSP00000510411.1:p.Lys242=
ENST00000693367.1:c.684A>G	ENSP00000508815.1:p.Lys228=
ENST00000693639.1:c.677A>G	ENSP00000510223.1:n.677A>G
ENST00000693646.1:c.590A>G	ENSP00000508449.1:n.590A>G
ENST00000352397.10:c.684A>G MANE Select	ENSP00000338461.6:p.Lys228=
ENST00000352397.9:c.684A>G	ENSP00000338461.6:p.Lys228=
ENST00000361740.8:c.783A>G	ENSP00000354468.4:p.Lys261=
ENST00000402438.5:c.615A>G	ENSP00000385679.1:p.Lys205=
ENST00000407332.5:c.615A>G	ENSP00000384457.1:p.Lys205=
ENST00000407623.7:c.615A>G	ENSP00000384834.3:p.Lys205=
ENST00000470741.1:n.2818A>G
NM_000398.6:c.684A>G	NP_000389.1:p.Lys228=
NM_001129819.2:c.615A>G	NP_001123291.1:p.Lys205=
NM_001171660.1:c.783A>G	NP_001165131.1:p.Lys261=
NM_001171661.1:c.615A>G	NP_001165132.1:p.Lys205=
NM_007326.4:c.615A>G	NP_015565.1:p.Lys205=
NM_000398.7:c.684A>G MANE Select	NP_000389.1:p.Lys228=
NM_001171660.2:c.783A>G	NP_001165131.1:p.Lys261=