Canonical Allele Identifier: CA411797725

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023350G>A (hg19) ; chr22:g.42627344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627344G>A , CM000684.2:g.42627344G>A	GRCh38
NC_000022.10:g.43023350G>A , CM000684.1:g.43023350G>A	GRCh37
NC_000022.9:g.41353294G>A	NCBI36
NG_012194.1:g.27056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.725C>T	ENSP00000354468.5:p.Pro242Leu
ENST00000402438.6:c.524C>T	ENSP00000385679.1:p.Pro175Leu
ENST00000407332.6:c.611C>T	ENSP00000384457.2:p.Pro204Leu
ENST00000407623.8:c.524C>T	ENSP00000384834.3:p.Pro175Leu
ENST00000617178.5:c.130C>T
ENST00000684963.1:n.2333C>T
ENST00000686523.1:c.*542C>T	ENSP00000508940.1:n.*542C>T
ENST00000687183.1:n.869C>T
ENST00000687198.1:c.524C>T	ENSP00000508492.1:p.Pro175Leu
ENST00000688117.1:c.692C>T	ENSP00000509015.1:p.Pro231Leu
ENST00000688244.1:c.334-3456C>T	ENSP00000510355.1:n.334-3456C>T
ENST00000689001.1:n.1215C>T
ENST00000689195.1:c.509C>T	ENSP00000509895.1:p.Pro170Leu
ENST00000689239.1:n.760C>T
ENST00000689795.1:n.755C>T
ENST00000690835.1:c.593C>T	ENSP00000509038.1:p.Pro198Leu
ENST00000690993.1:n.1348C>T
ENST00000691295.1:c.*76C>T	ENSP00000508706.1:n.*76C>T
ENST00000691918.1:c.572C>T	ENSP00000509525.1:p.Pro191Leu
ENST00000692152.1:c.524C>T	ENSP00000509317.1:p.Pro175Leu
ENST00000692344.1:n.1080C>T
ENST00000693363.1:c.635C>T	ENSP00000510411.1:p.Pro212Leu
ENST00000693367.1:c.593C>T	ENSP00000508815.1:p.Pro198Leu
ENST00000693639.1:c.586C>T	ENSP00000510223.1:n.586C>T
ENST00000693646.1:c.499C>T	ENSP00000508449.1:n.499C>T
ENST00000352397.10:c.593C>T MANE Select	ENSP00000338461.6:p.Pro198Leu
ENST00000352397.9:c.593C>T	ENSP00000338461.6:p.Pro198Leu
ENST00000361740.8:c.692C>T	ENSP00000354468.4:p.Pro231Leu
ENST00000402438.5:c.524C>T	ENSP00000385679.1:p.Pro175Leu
ENST00000407332.5:c.524C>T	ENSP00000384457.1:p.Pro175Leu
ENST00000407623.7:c.524C>T	ENSP00000384834.3:p.Pro175Leu
ENST00000470741.1:n.2727C>T
NM_000398.6:c.593C>T	NP_000389.1:p.Pro198Leu
NM_001129819.2:c.524C>T	NP_001123291.1:p.Pro175Leu
NM_001171660.1:c.692C>T	NP_001165131.1:p.Pro231Leu
NM_001171661.1:c.524C>T	NP_001165132.1:p.Pro175Leu
NM_007326.4:c.524C>T	NP_015565.1:p.Pro175Leu
NM_000398.7:c.593C>T MANE Select	NP_000389.1:p.Pro198Leu
NM_001171660.2:c.692C>T	NP_001165131.1:p.Pro231Leu