Canonical Allele Identifier: CA411799629

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024267A>T (hg19) ; chr22:g.42628261A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628261A>T , CM000684.2:g.42628261A>T	GRCh38
NC_000022.10:g.43024267A>T , CM000684.1:g.43024267A>T	GRCh37
NC_000022.9:g.41354211A>T	NCBI36
NG_012194.1:g.26139T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.354T>A	ENSP00000354468.5:p.His118Gln
ENST00000402438.6:c.285T>A	ENSP00000385679.1:p.His95Gln
ENST00000407332.6:c.372T>A	ENSP00000384457.2:p.His124Gln
ENST00000407623.8:c.285T>A	ENSP00000384834.3:p.His95Gln
ENST00000438270.2:c.285T>A	ENSP00000403439.2:p.His95Gln
ENST00000684963.1:n.1631T>A
ENST00000686129.1:c.285T>A	ENSP00000508623.1:p.His95Gln
ENST00000686523.1:c.*303T>A	ENSP00000508940.1:n.*303T>A
ENST00000687183.1:n.415T>A
ENST00000687198.1:c.285T>A	ENSP00000508492.1:p.His95Gln
ENST00000688117.1:c.453T>A	ENSP00000509015.1:p.His151Gln
ENST00000688244.1:c.333+2621T>A	ENSP00000510355.1:n.333+2621T>A
ENST00000689001.1:n.761T>A
ENST00000689195.1:c.354T>A	ENSP00000509895.1:p.His118Gln
ENST00000689239.1:n.521T>A
ENST00000689795.1:n.516T>A
ENST00000690835.1:c.354T>A	ENSP00000509038.1:p.His118Gln
ENST00000690993.1:n.431T>A
ENST00000691295.1:c.334-573T>A	ENSP00000508706.1:n.334-573T>A
ENST00000691918.1:c.333T>A	ENSP00000509525.1:p.His111Gln
ENST00000692152.1:c.285T>A	ENSP00000509317.1:p.His95Gln
ENST00000692344.1:n.378T>A
ENST00000693157.1:c.274T>A	ENSP00000510610.1:n.274T>A
ENST00000693363.1:c.354T>A	ENSP00000510411.1:p.His118Gln
ENST00000693367.1:c.354T>A	ENSP00000508815.1:p.His118Gln
ENST00000693639.1:c.347T>A	ENSP00000510223.1:p.Ile116Asn
ENST00000693646.1:c.260T>A	ENSP00000508449.1:p.Ile87Asn
ENST00000352397.10:c.354T>A MANE Select	ENSP00000338461.6:p.His118Gln
ENST00000352397.9:c.354T>A	ENSP00000338461.6:p.His118Gln
ENST00000361740.8:c.453T>A	ENSP00000354468.4:p.His151Gln
ENST00000402438.5:c.285T>A	ENSP00000385679.1:p.His95Gln
ENST00000407332.5:c.285T>A	ENSP00000384457.1:p.His95Gln
ENST00000407623.7:c.285T>A	ENSP00000384834.3:p.His95Gln
ENST00000438270.1:c.285T>A	ENSP00000403439.1:p.His95Gln
ENST00000470741.1:n.2488T>A
NM_000398.6:c.354T>A	NP_000389.1:p.His118Gln
NM_001129819.2:c.285T>A	NP_001123291.1:p.His95Gln
NM_001171660.1:c.453T>A	NP_001165131.1:p.His151Gln
NM_001171661.1:c.285T>A	NP_001165132.1:p.His95Gln
NM_007326.4:c.285T>A	NP_015565.1:p.His95Gln
NM_000398.7:c.354T>A MANE Select	NP_000389.1:p.His118Gln
NM_001171660.2:c.453T>A	NP_001165131.1:p.His151Gln