Canonical Allele Identifier: CA14960513

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42619710T>C , CM000684.2:g.42619710T>C	GRCh38
NC_000022.10:g.43015716T>C , CM000684.1:g.43015716T>C	GRCh37
NC_000022.9:g.41345660T>C	NCBI36
NG_012194.1:g.34690A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.*63A>G MANE Select	NP_000389.1:n.*63A>G
ENST00000352397.10:c.*63A>G MANE Select	ENSP00000338461.6:n.*63A>G
NM_000398.6:c.*63A>G	NP_000389.1:n.*63A>G
NM_001129819.2:c.*63A>G	NP_001123291.1:n.*63A>G
NM_001171660.1:c.*63A>G	NP_001165131.1:n.*63A>G
NM_001171660.2:c.*63A>G	NP_001165131.1:n.*63A>G
NM_001171661.1:c.*63A>G	NP_001165132.1:n.*63A>G
NM_007326.4:c.*63A>G	NP_015565.1:n.*63A>G
ENST00000352397.9:c.*63A>G	ENSP00000338461.6:n.*63A>G
ENST00000361740.8:c.1068A>G	ENSP00000354468.4:n.1068A>G
ENST00000361740.9:c.*63A>G	ENSP00000354468.5:n.*63A>G
ENST00000402438.6:c.*63A>G	ENSP00000385679.1:n.*63A>G
ENST00000407332.5:c.*63A>G	ENSP00000384457.1:n.*63A>G
ENST00000407332.6:c.*63A>G	ENSP00000384457.2:n.*63A>G
ENST00000407623.7:c.*63A>G	ENSP00000384834.3:n.*63A>G
ENST00000407623.8:c.*63A>G	ENSP00000384834.3:n.*63A>G
ENST00000470741.1:n.3103A>G
ENST00000617178.5:c.506A>G
ENST00000684963.1:n.2709A>G
ENST00000685184.1:n.561A>G
ENST00000686523.1:c.*918A>G	ENSP00000508940.1:n.*918A>G
ENST00000687183.1:n.1245A>G
ENST00000687198.1:c.*63A>G	ENSP00000508492.1:n.*63A>G
ENST00000688117.1:c.*63A>G	ENSP00000509015.1:n.*63A>G
ENST00000688244.1:c.*63A>G	ENSP00000510355.1:n.*63A>G
ENST00000689001.1:n.1591A>G
ENST00000689195.1:c.*63A>G	ENSP00000509895.1:n.*63A>G
ENST00000689795.1:n.1230A>G
ENST00000690835.1:c.*348A>G	ENSP00000509038.1:n.*348A>G
ENST00000690993.1:n.1724A>G
ENST00000691295.1:c.*452A>G	ENSP00000508706.1:n.*452A>G
ENST00000692152.1:c.*63A>G	ENSP00000509317.1:n.*63A>G
ENST00000693363.1:c.*63A>G	ENSP00000510411.1:n.*63A>G
ENST00000693367.1:c.842+127A>G	ENSP00000508815.1:n.842+127A>G