Canonical Allele Identifier: CA639829210

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627401C>A , CM000684.2:g.42627401C>A	GRCh38
NC_000022.10:g.43023407C>A , CM000684.1:g.43023407C>A	GRCh37
NC_000022.9:g.41353351C>A	NCBI36
NG_012194.1:g.26999G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.548-12G>T MANE Select	NP_000389.1:n.548-12G>T
ENST00000352397.10:c.548-12G>T MANE Select	ENSP00000338461.6:n.548-12G>T
NM_000398.6:c.548-12G>T	NP_000389.1:n.548-12G>T
NM_001129819.2:c.479-12G>T	NP_001123291.1:n.479-12G>T
NM_001171660.1:c.647-12G>T	NP_001165131.1:n.647-12G>T
NM_001171660.2:c.647-12G>T	NP_001165131.1:n.647-12G>T
NM_001171661.1:c.479-12G>T	NP_001165132.1:n.479-12G>T
NM_007326.4:c.479-12G>T	NP_015565.1:n.479-12G>T
ENST00000352397.9:c.548-12G>T	ENSP00000338461.6:n.548-12G>T
ENST00000361740.8:c.647-12G>T	ENSP00000354468.4:n.647-12G>T
ENST00000361740.9:c.680-12G>T	ENSP00000354468.5:n.680-12G>T
ENST00000402438.5:c.479-12G>T	ENSP00000385679.1:n.479-12G>T
ENST00000402438.6:c.479-12G>T	ENSP00000385679.1:n.479-12G>T
ENST00000407332.5:c.479-12G>T	ENSP00000384457.1:n.479-12G>T
ENST00000407332.6:c.566-12G>T	ENSP00000384457.2:n.566-12G>T
ENST00000407623.7:c.479-12G>T	ENSP00000384834.3:n.479-12G>T
ENST00000407623.8:c.479-12G>T	ENSP00000384834.3:n.479-12G>T
ENST00000470741.1:n.2682-12G>T
ENST00000617178.5:c.85-12G>T
ENST00000684963.1:n.2288-12G>T
ENST00000686523.1:c.*497-12G>T	ENSP00000508940.1:n.*497-12G>T
ENST00000687183.1:n.812G>T
ENST00000687198.1:c.479-12G>T	ENSP00000508492.1:n.479-12G>T
ENST00000688117.1:c.647-12G>T	ENSP00000509015.1:n.647-12G>T
ENST00000688244.1:c.333+3481G>T	ENSP00000510355.1:n.333+3481G>T
ENST00000689001.1:n.1158G>T
ENST00000689195.1:c.464-12G>T	ENSP00000509895.1:n.464-12G>T
ENST00000689239.1:n.715-12G>T
ENST00000689795.1:n.710-12G>T
ENST00000690835.1:c.548-12G>T	ENSP00000509038.1:n.548-12G>T
ENST00000690993.1:n.1291G>T
ENST00000691295.1:c.*31-12G>T	ENSP00000508706.1:n.*31-12G>T
ENST00000691918.1:c.527-12G>T	ENSP00000509525.1:n.527-12G>T
ENST00000692152.1:c.479-12G>T	ENSP00000509317.1:n.479-12G>T
ENST00000692344.1:n.1035-12G>T
ENST00000693363.1:c.578G>T	ENSP00000510411.1:p.Gly193Val
ENST00000693367.1:c.548-12G>T	ENSP00000508815.1:n.548-12G>T
ENST00000693639.1:c.541-12G>T	ENSP00000510223.1:n.541-12G>T
ENST00000693646.1:c.454-12G>T	ENSP00000508449.1:n.454-12G>T