Canonical Allele Identifier: CA639498464

Gene: CYB5R3

Linked Data

• gnomAD v2: 22-43020060-G-A
• MyVariant Identifiers: chr22:g.43020060G>A (hg19) ; chr22:g.42624054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42624054G>A , CM000684.2:g.42624054G>A	GRCh38
NC_000022.10:g.43020060G>A , CM000684.1:g.43020060G>A	GRCh37
NC_000022.9:g.41350004G>A	NCBI36
NG_012194.1:g.30346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.766-166C>T	ENSP00000354468.5:n.766-166C>T
ENST00000402438.6:c.565-166C>T	ENSP00000385679.1:n.565-166C>T
ENST00000407332.6:c.652-166C>T	ENSP00000384457.2:n.652-166C>T
ENST00000407623.8:c.565-166C>T	ENSP00000384834.3:n.565-166C>T
ENST00000617178.5:c.171-166C>T
ENST00000684963.1:n.2374-166C>T
ENST00000685184.1:n.60C>T
ENST00000686523.1:c.*583-166C>T	ENSP00000508940.1:n.*583-166C>T
ENST00000687183.1:n.910-166C>T
ENST00000687198.1:c.565-166C>T	ENSP00000508492.1:n.565-166C>T
ENST00000688117.1:c.733-166C>T	ENSP00000509015.1:n.733-166C>T
ENST00000688244.1:c.334-166C>T	ENSP00000510355.1:n.334-166C>T
ENST00000689001.1:n.1256-166C>T
ENST00000689195.1:c.550-166C>T	ENSP00000509895.1:n.550-166C>T
ENST00000689239.1:n.801-166C>T
ENST00000689795.1:n.895-166C>T
ENST00000690835.1:c.*13-166C>T	ENSP00000509038.1:n.*13-166C>T
ENST00000690993.1:n.1389-166C>T
ENST00000691295.1:c.*117-166C>T	ENSP00000508706.1:n.*117-166C>T
ENST00000691918.1:c.924-166C>T	ENSP00000509525.1:n.924-166C>T
ENST00000692152.1:c.565-166C>T	ENSP00000509317.1:n.565-166C>T
ENST00000692344.1:n.1121-166C>T
ENST00000693363.1:c.676-166C>T	ENSP00000510411.1:n.676-166C>T
ENST00000693367.1:c.634-166C>T	ENSP00000508815.1:n.634-166C>T
ENST00000693639.1:c.627-166C>T	ENSP00000510223.1:n.627-166C>T
ENST00000693646.1:c.540-166C>T	ENSP00000508449.1:n.540-166C>T
ENST00000352397.10:c.634-166C>T MANE Select	ENSP00000338461.6:n.634-166C>T
ENST00000352397.9:c.634-166C>T	ENSP00000338461.6:n.634-166C>T
ENST00000361740.8:c.733-166C>T	ENSP00000354468.4:n.733-166C>T
ENST00000402438.5:c.565-166C>T	ENSP00000385679.1:n.565-166C>T
ENST00000407332.5:c.565-166C>T	ENSP00000384457.1:n.565-166C>T
ENST00000407623.7:c.565-166C>T	ENSP00000384834.3:n.565-166C>T
ENST00000470741.1:n.2768-166C>T
NM_000398.6:c.634-166C>T	NP_000389.1:n.634-166C>T
NM_001129819.2:c.565-166C>T	NP_001123291.1:n.565-166C>T
NM_001171660.1:c.733-166C>T	NP_001165131.1:n.733-166C>T
NM_001171661.1:c.565-166C>T	NP_001165132.1:n.565-166C>T
NM_007326.4:c.565-166C>T	NP_015565.1:n.565-166C>T
NM_000398.7:c.634-166C>T MANE Select	NP_000389.1:n.634-166C>T
NM_001171660.2:c.733-166C>T	NP_001165131.1:n.733-166C>T