Canonical Allele Identifier: CA514812779

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623817-G-A
• MyVariant Identifiers: chr22:g.43019823G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623817G>A , CM000684.2:g.42623817G>A	GRCh38
NC_000022.10:g.43019823G>A , CM000684.1:g.43019823G>A	GRCh37
NC_000022.9:g.41349767G>A	NCBI36
NG_012194.1:g.30583C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.837C>T	ENSP00000354468.5:p.Leu279=
ENST00000402438.6:c.636C>T	ENSP00000385679.1:p.Leu212=
ENST00000407332.6:c.723C>T	ENSP00000384457.2:p.Leu241=
ENST00000407623.8:c.636C>T	ENSP00000384834.3:p.Leu212=
ENST00000617178.5:c.242C>T
ENST00000684963.1:n.2445C>T
ENST00000685184.1:n.297C>T
ENST00000686523.1:c.*654C>T	ENSP00000508940.1:n.*654C>T
ENST00000687183.1:n.981C>T
ENST00000687198.1:c.636C>T	ENSP00000508492.1:p.Leu212=
ENST00000688117.1:c.804C>T	ENSP00000509015.1:p.Leu268=
ENST00000688244.1:c.405C>T	ENSP00000510355.1:p.Leu135=
ENST00000689001.1:n.1327C>T
ENST00000689195.1:c.621C>T	ENSP00000509895.1:p.Leu207=
ENST00000689239.1:n.872C>T
ENST00000689795.1:n.966C>T
ENST00000690835.1:c.*84C>T	ENSP00000509038.1:n.*84C>T
ENST00000690993.1:n.1460C>T
ENST00000691295.1:c.*188C>T	ENSP00000508706.1:n.*188C>T
ENST00000691918.1:c.995C>T	ENSP00000509525.1:n.995C>T
ENST00000692152.1:c.636C>T	ENSP00000509317.1:p.Leu212=
ENST00000692344.1:n.1192C>T
ENST00000693363.1:c.747C>T	ENSP00000510411.1:p.Leu249=
ENST00000693367.1:c.705C>T	ENSP00000508815.1:p.Leu235=
ENST00000693639.1:c.698C>T	ENSP00000510223.1:n.698C>T
ENST00000693646.1:c.611C>T	ENSP00000508449.1:n.611C>T
ENST00000352397.10:c.705C>T MANE Select	ENSP00000338461.6:p.Leu235=
ENST00000352397.9:c.705C>T	ENSP00000338461.6:p.Leu235=
ENST00000361740.8:c.804C>T	ENSP00000354468.4:p.Leu268=
ENST00000402438.5:c.636C>T	ENSP00000385679.1:p.Leu212=
ENST00000407332.5:c.636C>T	ENSP00000384457.1:p.Leu212=
ENST00000407623.7:c.636C>T	ENSP00000384834.3:p.Leu212=
ENST00000470741.1:n.2839C>T
NM_000398.6:c.705C>T	NP_000389.1:p.Leu235=
NM_001129819.2:c.636C>T	NP_001123291.1:p.Leu212=
NM_001171660.1:c.804C>T	NP_001165131.1:p.Leu268=
NM_001171661.1:c.636C>T	NP_001165132.1:p.Leu212=
NM_007326.4:c.636C>T	NP_015565.1:p.Leu212=
NM_000398.7:c.705C>T MANE Select	NP_000389.1:p.Leu235=
NM_001171660.2:c.804C>T	NP_001165131.1:p.Leu268=