Canonical Allele Identifier: CA2657075362

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623930-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623930A>G , CM000684.2:g.42623930A>G	GRCh38
NC_000022.10:g.43019936A>G , CM000684.1:g.43019936A>G	GRCh37
NC_000022.9:g.41349880A>G	NCBI36
NG_012194.1:g.30470T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.766-42T>C	ENSP00000354468.5:n.766-42T>C
ENST00000402438.6:c.565-42T>C	ENSP00000385679.1:n.565-42T>C
ENST00000407332.6:c.652-42T>C	ENSP00000384457.2:n.652-42T>C
ENST00000407623.8:c.565-42T>C	ENSP00000384834.3:n.565-42T>C
ENST00000617178.5:c.171-42T>C
ENST00000684963.1:n.2374-42T>C
ENST00000685184.1:n.184T>C
ENST00000686523.1:c.*583-42T>C	ENSP00000508940.1:n.*583-42T>C
ENST00000687183.1:n.910-42T>C
ENST00000687198.1:c.565-42T>C	ENSP00000508492.1:n.565-42T>C
ENST00000688117.1:c.733-42T>C	ENSP00000509015.1:n.733-42T>C
ENST00000688244.1:c.334-42T>C	ENSP00000510355.1:n.334-42T>C
ENST00000689001.1:n.1256-42T>C
ENST00000689195.1:c.550-42T>C	ENSP00000509895.1:n.550-42T>C
ENST00000689239.1:n.801-42T>C
ENST00000689795.1:n.895-42T>C
ENST00000690835.1:c.*13-42T>C	ENSP00000509038.1:n.*13-42T>C
ENST00000690993.1:n.1389-42T>C
ENST00000691295.1:c.*117-42T>C	ENSP00000508706.1:n.*117-42T>C
ENST00000691918.1:c.924-42T>C	ENSP00000509525.1:n.924-42T>C
ENST00000692152.1:c.565-42T>C	ENSP00000509317.1:n.565-42T>C
ENST00000692344.1:n.1121-42T>C
ENST00000693363.1:c.676-42T>C	ENSP00000510411.1:n.676-42T>C
ENST00000693367.1:c.634-42T>C	ENSP00000508815.1:n.634-42T>C
ENST00000693639.1:c.627-42T>C	ENSP00000510223.1:n.627-42T>C
ENST00000693646.1:c.540-42T>C	ENSP00000508449.1:n.540-42T>C
ENST00000352397.10:c.634-42T>C MANE Select	ENSP00000338461.6:n.634-42T>C
ENST00000352397.9:c.634-42T>C	ENSP00000338461.6:n.634-42T>C
ENST00000361740.8:c.733-42T>C	ENSP00000354468.4:n.733-42T>C
ENST00000402438.5:c.565-42T>C	ENSP00000385679.1:n.565-42T>C
ENST00000407332.5:c.565-42T>C	ENSP00000384457.1:n.565-42T>C
ENST00000407623.7:c.565-42T>C	ENSP00000384834.3:n.565-42T>C
ENST00000470741.1:n.2768-42T>C
NM_000398.6:c.634-42T>C	NP_000389.1:n.634-42T>C
NM_001129819.2:c.565-42T>C	NP_001123291.1:n.565-42T>C
NM_001171660.1:c.733-42T>C	NP_001165131.1:n.733-42T>C
NM_001171661.1:c.565-42T>C	NP_001165132.1:n.565-42T>C
NM_007326.4:c.565-42T>C	NP_015565.1:n.565-42T>C
NM_000398.7:c.634-42T>C MANE Select	NP_000389.1:n.634-42T>C
NM_001171660.2:c.733-42T>C	NP_001165131.1:n.733-42T>C