Canonical Allele Identifier: CA411799731

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024282G>C (hg19) ; chr22:g.42628276G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628276G>C , CM000684.2:g.42628276G>C	GRCh38
NC_000022.10:g.43024282G>C , CM000684.1:g.43024282G>C	GRCh37
NC_000022.9:g.41354226G>C	NCBI36
NG_012194.1:g.26124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.339C>G	ENSP00000354468.5:p.Tyr113Ter
ENST00000402438.6:c.270C>G	ENSP00000385679.1:p.Tyr90Ter
ENST00000407332.6:c.357C>G	ENSP00000384457.2:p.Tyr119Ter
ENST00000407623.8:c.270C>G	ENSP00000384834.3:p.Tyr90Ter
ENST00000438270.2:c.270C>G	ENSP00000403439.2:p.Tyr90Ter
ENST00000684963.1:n.1616C>G
ENST00000686129.1:c.270C>G	ENSP00000508623.1:p.Tyr90Ter
ENST00000686523.1:c.*288C>G	ENSP00000508940.1:n.*288C>G
ENST00000687183.1:n.400C>G
ENST00000687198.1:c.270C>G	ENSP00000508492.1:p.Tyr90Ter
ENST00000688117.1:c.438C>G	ENSP00000509015.1:p.Tyr146Ter
ENST00000688244.1:c.333+2606C>G	ENSP00000510355.1:n.333+2606C>G
ENST00000689001.1:n.746C>G
ENST00000689195.1:c.339C>G	ENSP00000509895.1:p.Tyr113Ter
ENST00000689239.1:n.506C>G
ENST00000689795.1:n.501C>G
ENST00000690835.1:c.339C>G	ENSP00000509038.1:p.Tyr113Ter
ENST00000690993.1:n.416C>G
ENST00000691295.1:c.334-588C>G	ENSP00000508706.1:n.334-588C>G
ENST00000691918.1:c.318C>G	ENSP00000509525.1:p.Tyr106Ter
ENST00000692152.1:c.270C>G	ENSP00000509317.1:p.Tyr90Ter
ENST00000692344.1:n.363C>G
ENST00000693157.1:c.259C>G	ENSP00000510610.1:n.259C>G
ENST00000693363.1:c.339C>G	ENSP00000510411.1:p.Tyr113Ter
ENST00000693367.1:c.339C>G	ENSP00000508815.1:p.Tyr113Ter
ENST00000693639.1:c.332C>G	ENSP00000510223.1:p.Thr111Ser
ENST00000693646.1:c.245C>G	ENSP00000508449.1:p.Thr82Ser
ENST00000352397.10:c.339C>G MANE Select	ENSP00000338461.6:p.Tyr113Ter
ENST00000352397.9:c.339C>G	ENSP00000338461.6:p.Tyr113Ter
ENST00000361740.8:c.438C>G	ENSP00000354468.4:p.Tyr146Ter
ENST00000402438.5:c.270C>G	ENSP00000385679.1:p.Tyr90Ter
ENST00000407332.5:c.270C>G	ENSP00000384457.1:p.Tyr90Ter
ENST00000407623.7:c.270C>G	ENSP00000384834.3:p.Tyr90Ter
ENST00000438270.1:c.270C>G	ENSP00000403439.1:p.Tyr90Ter
ENST00000470741.1:n.2473C>G
NM_000398.6:c.339C>G	NP_000389.1:p.Tyr113Ter
NM_001129819.2:c.270C>G	NP_001123291.1:p.Tyr90Ter
NM_001171660.1:c.438C>G	NP_001165131.1:p.Tyr146Ter
NM_001171661.1:c.270C>G	NP_001165132.1:p.Tyr90Ter
NM_007326.4:c.270C>G	NP_015565.1:p.Tyr90Ter
NM_000398.7:c.339C>G MANE Select	NP_000389.1:p.Tyr113Ter
NM_001171660.2:c.438C>G	NP_001165131.1:p.Tyr146Ter