Canonical Allele Identifier: CA411796749

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623882-T-C
• MyVariant Identifiers: chr22:g.43019888T>C (hg19) ; chr22:g.42623882T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623882T>C , CM000684.2:g.42623882T>C	GRCh38
NC_000022.10:g.43019888T>C , CM000684.1:g.43019888T>C	GRCh37
NC_000022.9:g.41349832T>C	NCBI36
NG_012194.1:g.30518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.772A>G	ENSP00000354468.5:p.Lys258Glu
ENST00000402438.6:c.571A>G	ENSP00000385679.1:p.Lys191Glu
ENST00000407332.6:c.658A>G	ENSP00000384457.2:p.Lys220Glu
ENST00000407623.8:c.571A>G	ENSP00000384834.3:p.Lys191Glu
ENST00000617178.5:c.177A>G
ENST00000684963.1:n.2380A>G
ENST00000685184.1:n.232A>G
ENST00000686523.1:c.*589A>G	ENSP00000508940.1:n.*589A>G
ENST00000687183.1:n.916A>G
ENST00000687198.1:c.571A>G	ENSP00000508492.1:p.Lys191Glu
ENST00000688117.1:c.739A>G	ENSP00000509015.1:p.Lys247Glu
ENST00000688244.1:c.340A>G	ENSP00000510355.1:p.Lys114Glu
ENST00000689001.1:n.1262A>G
ENST00000689195.1:c.556A>G	ENSP00000509895.1:p.Lys186Glu
ENST00000689239.1:n.807A>G
ENST00000689795.1:n.901A>G
ENST00000690835.1:c.*19A>G	ENSP00000509038.1:n.*19A>G
ENST00000690993.1:n.1395A>G
ENST00000691295.1:c.*123A>G	ENSP00000508706.1:n.*123A>G
ENST00000691918.1:c.930A>G	ENSP00000509525.1:n.930A>G
ENST00000692152.1:c.571A>G	ENSP00000509317.1:p.Lys191Glu
ENST00000692344.1:n.1127A>G
ENST00000693363.1:c.682A>G	ENSP00000510411.1:p.Lys228Glu
ENST00000693367.1:c.640A>G	ENSP00000508815.1:p.Lys214Glu
ENST00000693639.1:c.633A>G	ENSP00000510223.1:n.633A>G
ENST00000693646.1:c.546A>G	ENSP00000508449.1:n.546A>G
ENST00000352397.10:c.640A>G MANE Select	ENSP00000338461.6:p.Lys214Glu
ENST00000352397.9:c.640A>G	ENSP00000338461.6:p.Lys214Glu
ENST00000361740.8:c.739A>G	ENSP00000354468.4:p.Lys247Glu
ENST00000402438.5:c.571A>G	ENSP00000385679.1:p.Lys191Glu
ENST00000407332.5:c.571A>G	ENSP00000384457.1:p.Lys191Glu
ENST00000407623.7:c.571A>G	ENSP00000384834.3:p.Lys191Glu
ENST00000470741.1:n.2774A>G
NM_000398.6:c.640A>G	NP_000389.1:p.Lys214Glu
NM_001129819.2:c.571A>G	NP_001123291.1:p.Lys191Glu
NM_001171660.1:c.739A>G	NP_001165131.1:p.Lys247Glu
NM_001171661.1:c.571A>G	NP_001165132.1:p.Lys191Glu
NM_007326.4:c.571A>G	NP_015565.1:p.Lys191Glu
NM_000398.7:c.640A>G MANE Select	NP_000389.1:p.Lys214Glu
NM_001171660.2:c.739A>G	NP_001165131.1:p.Lys247Glu