Canonical Allele Identifier: CA411797760

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023357T>G (hg19) ; chr22:g.42627351T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627351T>G , CM000684.2:g.42627351T>G	GRCh38
NC_000022.10:g.43023357T>G , CM000684.1:g.43023357T>G	GRCh37
NC_000022.9:g.41353301T>G	NCBI36
NG_012194.1:g.27049A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.718A>C	ENSP00000354468.5:p.Lys240Gln
ENST00000402438.6:c.517A>C	ENSP00000385679.1:p.Lys173Gln
ENST00000407332.6:c.604A>C	ENSP00000384457.2:p.Lys202Gln
ENST00000407623.8:c.517A>C	ENSP00000384834.3:p.Lys173Gln
ENST00000617178.5:c.123A>C
ENST00000684963.1:n.2326A>C
ENST00000686523.1:c.*535A>C	ENSP00000508940.1:n.*535A>C
ENST00000687183.1:n.862A>C
ENST00000687198.1:c.517A>C	ENSP00000508492.1:p.Lys173Gln
ENST00000688117.1:c.685A>C	ENSP00000509015.1:p.Lys229Gln
ENST00000688244.1:c.334-3463A>C	ENSP00000510355.1:n.334-3463A>C
ENST00000689001.1:n.1208A>C
ENST00000689195.1:c.502A>C	ENSP00000509895.1:p.Lys168Gln
ENST00000689239.1:n.753A>C
ENST00000689795.1:n.748A>C
ENST00000690835.1:c.586A>C	ENSP00000509038.1:p.Lys196Gln
ENST00000690993.1:n.1341A>C
ENST00000691295.1:c.*69A>C	ENSP00000508706.1:n.*69A>C
ENST00000691918.1:c.565A>C	ENSP00000509525.1:p.Lys189Gln
ENST00000692152.1:c.517A>C	ENSP00000509317.1:p.Lys173Gln
ENST00000692344.1:n.1073A>C
ENST00000693363.1:c.628A>C	ENSP00000510411.1:p.Lys210Gln
ENST00000693367.1:c.586A>C	ENSP00000508815.1:p.Lys196Gln
ENST00000693639.1:c.579A>C	ENSP00000510223.1:n.579A>C
ENST00000693646.1:c.492A>C	ENSP00000508449.1:n.492A>C
ENST00000352397.10:c.586A>C MANE Select	ENSP00000338461.6:p.Lys196Gln
ENST00000352397.9:c.586A>C	ENSP00000338461.6:p.Lys196Gln
ENST00000361740.8:c.685A>C	ENSP00000354468.4:p.Lys229Gln
ENST00000402438.5:c.517A>C	ENSP00000385679.1:p.Lys173Gln
ENST00000407332.5:c.517A>C	ENSP00000384457.1:p.Lys173Gln
ENST00000407623.7:c.517A>C	ENSP00000384834.3:p.Lys173Gln
ENST00000470741.1:n.2720A>C
NM_000398.6:c.586A>C	NP_000389.1:p.Lys196Gln
NM_001129819.2:c.517A>C	NP_001123291.1:p.Lys173Gln
NM_001171660.1:c.685A>C	NP_001165131.1:p.Lys229Gln
NM_001171661.1:c.517A>C	NP_001165132.1:p.Lys173Gln
NM_007326.4:c.517A>C	NP_015565.1:p.Lys173Gln
NM_000398.7:c.586A>C MANE Select	NP_000389.1:p.Lys196Gln
NM_001171660.2:c.685A>C	NP_001165131.1:p.Lys229Gln