Canonical Allele Identifier: CA14952129

Gene: CYB5R3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42644867G>A , CM000684.2:g.42644867G>A	GRCh38
NC_000022.10:g.43040873G>A , CM000684.1:g.43040873G>A	GRCh37
NC_000022.9:g.41370817G>A	NCBI36
NG_012194.1:g.9533C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000398.7:c.21+4428C>T MANE Select	NP_000389.1:n.21+4428C>T
ENST00000352397.10:c.21+4428C>T MANE Select	ENSP00000338461.6:n.21+4428C>T
NM_000398.6:c.21+4428C>T	NP_000389.1:n.21+4428C>T
NM_001129819.2:c.-49+1774C>T	NP_001123291.1:n.-49+1774C>T
NM_001171661.1:c.-49+1774C>T	NP_001165132.1:n.-49+1774C>T
NM_007326.4:c.-49+2019C>T	NP_015565.1:n.-49+2019C>T
ENST00000352397.9:c.21+4428C>T	ENSP00000338461.6:n.21+4428C>T
ENST00000361740.9:c.21+4428C>T	ENSP00000354468.5:n.21+4428C>T
ENST00000402438.5:c.-49+1774C>T	ENSP00000385679.1:n.-49+1774C>T
ENST00000402438.6:c.-49+1774C>T	ENSP00000385679.1:n.-49+1774C>T
ENST00000407332.6:c.21+4428C>T	ENSP00000384457.2:n.21+4428C>T
ENST00000407623.7:c.-49+1774C>T	ENSP00000384834.3:n.-49+1774C>T
ENST00000407623.8:c.-49+1774C>T	ENSP00000384834.3:n.-49+1774C>T
ENST00000438270.1:c.-49+2019C>T	ENSP00000403439.1:n.-49+2019C>T
ENST00000438270.2:c.-49+2051C>T	ENSP00000403439.2:n.-49+2051C>T
ENST00000466276.1:n.39+1774C>T
ENST00000466276.2:n.88+4428C>T
ENST00000686129.1:c.-48-8021C>T	ENSP00000508623.1:n.-48-8021C>T
ENST00000686523.1:c.21+4428C>T	ENSP00000508940.1:n.21+4428C>T
ENST00000687183.1:n.82+4428C>T
ENST00000687198.1:c.-49+2019C>T	ENSP00000508492.1:n.-49+2019C>T
ENST00000688004.1:n.66+4428C>T
ENST00000688244.1:c.21+4428C>T	ENSP00000510355.1:n.21+4428C>T
ENST00000689001.1:n.39+1774C>T
ENST00000689195.1:c.21+4428C>T	ENSP00000509895.1:n.21+4428C>T
ENST00000689239.1:n.58+4428C>T
ENST00000689795.1:n.53+4428C>T
ENST00000690835.1:c.21+4428C>T	ENSP00000509038.1:n.21+4428C>T
ENST00000690993.1:n.98+4428C>T
ENST00000691295.1:c.21+4428C>T	ENSP00000508706.1:n.21+4428C>T
ENST00000692152.1:c.-48-8021C>T	ENSP00000509317.1:n.-48-8021C>T
ENST00000692344.1:n.45+4428C>T
ENST00000693363.1:c.21+4428C>T	ENSP00000510411.1:n.21+4428C>T
ENST00000693367.1:c.21+4428C>T	ENSP00000508815.1:n.21+4428C>T
ENST00000693716.1:n.250-8021C>T