Canonical Allele Identifier: CA411796481

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43019843G>T (hg19) ; chr22:g.42623837G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623837G>T , CM000684.2:g.42623837G>T	GRCh38
NC_000022.10:g.43019843G>T , CM000684.1:g.43019843G>T	GRCh37
NC_000022.9:g.41349787G>T	NCBI36
NG_012194.1:g.30563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.817C>A	ENSP00000354468.5:p.His273Asn
ENST00000402438.6:c.616C>A	ENSP00000385679.1:p.His206Asn
ENST00000407332.6:c.703C>A	ENSP00000384457.2:p.His235Asn
ENST00000407623.8:c.616C>A	ENSP00000384834.3:p.His206Asn
ENST00000617178.5:c.222C>A
ENST00000684963.1:n.2425C>A
ENST00000685184.1:n.277C>A
ENST00000686523.1:c.*634C>A	ENSP00000508940.1:n.*634C>A
ENST00000687183.1:n.961C>A
ENST00000687198.1:c.616C>A	ENSP00000508492.1:p.His206Asn
ENST00000688117.1:c.784C>A	ENSP00000509015.1:p.His262Asn
ENST00000688244.1:c.385C>A	ENSP00000510355.1:p.His129Asn
ENST00000689001.1:n.1307C>A
ENST00000689195.1:c.601C>A	ENSP00000509895.1:p.His201Asn
ENST00000689239.1:n.852C>A
ENST00000689795.1:n.946C>A
ENST00000690835.1:c.*64C>A	ENSP00000509038.1:n.*64C>A
ENST00000690993.1:n.1440C>A
ENST00000691295.1:c.*168C>A	ENSP00000508706.1:n.*168C>A
ENST00000691918.1:c.975C>A	ENSP00000509525.1:n.975C>A
ENST00000692152.1:c.616C>A	ENSP00000509317.1:p.His206Asn
ENST00000692344.1:n.1172C>A
ENST00000693363.1:c.727C>A	ENSP00000510411.1:p.His243Asn
ENST00000693367.1:c.685C>A	ENSP00000508815.1:p.His229Asn
ENST00000693639.1:c.678C>A	ENSP00000510223.1:n.678C>A
ENST00000693646.1:c.591C>A	ENSP00000508449.1:n.591C>A
ENST00000352397.10:c.685C>A MANE Select	ENSP00000338461.6:p.His229Asn
ENST00000352397.9:c.685C>A	ENSP00000338461.6:p.His229Asn
ENST00000361740.8:c.784C>A	ENSP00000354468.4:p.His262Asn
ENST00000402438.5:c.616C>A	ENSP00000385679.1:p.His206Asn
ENST00000407332.5:c.616C>A	ENSP00000384457.1:p.His206Asn
ENST00000407623.7:c.616C>A	ENSP00000384834.3:p.His206Asn
ENST00000470741.1:n.2819C>A
NM_000398.6:c.685C>A	NP_000389.1:p.His229Asn
NM_001129819.2:c.616C>A	NP_001123291.1:p.His206Asn
NM_001171660.1:c.784C>A	NP_001165131.1:p.His262Asn
NM_001171661.1:c.616C>A	NP_001165132.1:p.His206Asn
NM_007326.4:c.616C>A	NP_015565.1:p.His206Asn
NM_000398.7:c.685C>A MANE Select	NP_000389.1:p.His229Asn
NM_001171660.2:c.784C>A	NP_001165131.1:p.His262Asn