Canonical Allele Identifier: CA10269607

Gene: CYB5R3

Linked Data

• dbSNP Id: rs765710455
• ExAC: 22:43019815 G / A
• gnomAD v2: 22-43019815-G-A
• gnomAD v3: 22-42623809-G-A
• gnomAD v4: 22-42623809-G-A
• MyVariant Identifiers: chr22:g.43019815G>A (hg19) ; chr22:g.42623809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623809G>A , CM000684.2:g.42623809G>A	GRCh38
NC_000022.10:g.43019815G>A , CM000684.1:g.43019815G>A	GRCh37
NC_000022.9:g.41349759G>A	NCBI36
NG_012194.1:g.30591C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.845C>T	ENSP00000354468.5:p.Thr282Met
ENST00000402438.6:c.644C>T	ENSP00000385679.1:p.Thr215Met
ENST00000407332.6:c.731C>T	ENSP00000384457.2:p.Thr244Met
ENST00000407623.8:c.644C>T	ENSP00000384834.3:p.Thr215Met
ENST00000617178.5:c.250C>T
ENST00000684963.1:n.2453C>T
ENST00000685184.1:n.305C>T
ENST00000686523.1:c.*662C>T	ENSP00000508940.1:n.*662C>T
ENST00000687183.1:n.989C>T
ENST00000687198.1:c.644C>T	ENSP00000508492.1:p.Thr215Met
ENST00000688117.1:c.812C>T	ENSP00000509015.1:p.Thr271Met
ENST00000688244.1:c.413C>T	ENSP00000510355.1:p.Thr138Met
ENST00000689001.1:n.1335C>T
ENST00000689195.1:c.629C>T	ENSP00000509895.1:p.Thr210Met
ENST00000689239.1:n.880C>T
ENST00000689795.1:n.974C>T
ENST00000690835.1:c.*92C>T	ENSP00000509038.1:n.*92C>T
ENST00000690993.1:n.1468C>T
ENST00000691295.1:c.*196C>T	ENSP00000508706.1:n.*196C>T
ENST00000691918.1:c.1003C>T	ENSP00000509525.1:n.1003C>T
ENST00000692152.1:c.644C>T	ENSP00000509317.1:p.Thr215Met
ENST00000692344.1:n.1200C>T
ENST00000693363.1:c.755C>T	ENSP00000510411.1:p.Thr252Met
ENST00000693367.1:c.713C>T	ENSP00000508815.1:p.Thr238Met
ENST00000693639.1:c.706C>T	ENSP00000510223.1:n.706C>T
ENST00000693646.1:c.619C>T	ENSP00000508449.1:n.619C>T
ENST00000352397.10:c.713C>T MANE Select	ENSP00000338461.6:p.Thr238Met
ENST00000352397.9:c.713C>T	ENSP00000338461.6:p.Thr238Met
ENST00000361740.8:c.812C>T	ENSP00000354468.4:p.Thr271Met
ENST00000402438.5:c.644C>T	ENSP00000385679.1:p.Thr215Met
ENST00000407332.5:c.644C>T	ENSP00000384457.1:p.Thr215Met
ENST00000407623.7:c.644C>T	ENSP00000384834.3:p.Thr215Met
ENST00000470741.1:n.2847C>T
NM_000398.6:c.713C>T	NP_000389.1:p.Thr238Met
NM_001129819.2:c.644C>T	NP_001123291.1:p.Thr215Met
NM_001171660.1:c.812C>T	NP_001165131.1:p.Thr271Met
NM_001171661.1:c.644C>T	NP_001165132.1:p.Thr215Met
NM_007326.4:c.644C>T	NP_015565.1:p.Thr215Met
NM_000398.7:c.713C>T MANE Select	NP_000389.1:p.Thr238Met
NM_001171660.2:c.812C>T	NP_001165131.1:p.Thr271Met