Canonical Allele Identifier: CA411796752

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019888T>G (hg19) ; chr22:g.42623882T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.772A>C	ENSP00000354468.5:p.Lys258Gln
ENST00000402438.6:c.571A>C	ENSP00000385679.1:p.Lys191Gln
ENST00000407332.6:c.658A>C	ENSP00000384457.2:p.Lys220Gln
ENST00000407623.8:c.571A>C	ENSP00000384834.3:p.Lys191Gln
ENST00000617178.5:c.177A>C
ENST00000684963.1:n.2380A>C
ENST00000685184.1:n.232A>C
ENST00000686523.1:c.*589A>C	ENSP00000508940.1:n.*589A>C
ENST00000687183.1:n.916A>C
ENST00000687198.1:c.571A>C	ENSP00000508492.1:p.Lys191Gln
ENST00000688117.1:c.739A>C	ENSP00000509015.1:p.Lys247Gln
ENST00000688244.1:c.340A>C	ENSP00000510355.1:p.Lys114Gln
ENST00000689001.1:n.1262A>C
ENST00000689195.1:c.556A>C	ENSP00000509895.1:p.Lys186Gln
ENST00000689239.1:n.807A>C
ENST00000689795.1:n.901A>C
ENST00000690835.1:c.*19A>C	ENSP00000509038.1:n.*19A>C
ENST00000690993.1:n.1395A>C
ENST00000691295.1:c.*123A>C	ENSP00000508706.1:n.*123A>C
ENST00000691918.1:c.930A>C	ENSP00000509525.1:n.930A>C
ENST00000692152.1:c.571A>C	ENSP00000509317.1:p.Lys191Gln
ENST00000692344.1:n.1127A>C
ENST00000693363.1:c.682A>C	ENSP00000510411.1:p.Lys228Gln
ENST00000693367.1:c.640A>C	ENSP00000508815.1:p.Lys214Gln
ENST00000693639.1:c.633A>C	ENSP00000510223.1:n.633A>C
ENST00000693646.1:c.546A>C	ENSP00000508449.1:n.546A>C
ENST00000352397.10:c.640A>C MANE Select	ENSP00000338461.6:p.Lys214Gln
ENST00000352397.9:c.640A>C	ENSP00000338461.6:p.Lys214Gln
ENST00000361740.8:c.739A>C	ENSP00000354468.4:p.Lys247Gln
ENST00000402438.5:c.571A>C	ENSP00000385679.1:p.Lys191Gln
ENST00000407332.5:c.571A>C	ENSP00000384457.1:p.Lys191Gln
ENST00000407623.7:c.571A>C	ENSP00000384834.3:p.Lys191Gln
ENST00000470741.1:n.2774A>C
NM_000398.6:c.640A>C	NP_000389.1:p.Lys214Gln
NM_001129819.2:c.571A>C	NP_001123291.1:p.Lys191Gln
NM_001171660.1:c.739A>C	NP_001165131.1:p.Lys247Gln
NM_001171661.1:c.571A>C	NP_001165132.1:p.Lys191Gln
NM_007326.4:c.571A>C	NP_015565.1:p.Lys191Gln
NM_000398.7:c.640A>C MANE Select	NP_000389.1:p.Lys214Gln
NM_001171660.2:c.739A>C	NP_001165131.1:p.Lys247Gln