Canonical Allele Identifier: CA411796268

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1928112634
• MyVariant Identifiers: chr22:g.43019795C>T (hg19) ; chr22:g.42623789C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623789C>T , CM000684.2:g.42623789C>T	GRCh38
NC_000022.10:g.43019795C>T , CM000684.1:g.43019795C>T	GRCh37
NC_000022.9:g.41349739C>T	NCBI36
NG_012194.1:g.30611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.865G>A	ENSP00000354468.5:p.Ala289Thr
ENST00000402438.6:c.664G>A	ENSP00000385679.1:p.Ala222Thr
ENST00000407332.6:c.751G>A	ENSP00000384457.2:p.Ala251Thr
ENST00000407623.8:c.664G>A	ENSP00000384834.3:p.Ala222Thr
ENST00000617178.5:c.270G>A
ENST00000684963.1:n.2473G>A
ENST00000685184.1:n.325G>A
ENST00000686523.1:c.*682G>A	ENSP00000508940.1:n.*682G>A
ENST00000687183.1:n.1009G>A
ENST00000687198.1:c.664G>A	ENSP00000508492.1:p.Ala222Thr
ENST00000688117.1:c.832G>A	ENSP00000509015.1:p.Ala278Thr
ENST00000688244.1:c.433G>A	ENSP00000510355.1:p.Ala145Thr
ENST00000689001.1:n.1355G>A
ENST00000689195.1:c.649G>A	ENSP00000509895.1:p.Ala217Thr
ENST00000689239.1:n.900G>A
ENST00000689795.1:n.994G>A
ENST00000690835.1:c.*112G>A	ENSP00000509038.1:n.*112G>A
ENST00000690993.1:n.1488G>A
ENST00000691295.1:c.*216G>A	ENSP00000508706.1:n.*216G>A
ENST00000691918.1:c.1023G>A	ENSP00000509525.1:n.1023G>A
ENST00000692152.1:c.664G>A	ENSP00000509317.1:p.Ala222Thr
ENST00000692344.1:n.1220G>A
ENST00000693363.1:c.775G>A	ENSP00000510411.1:p.Ala259Thr
ENST00000693367.1:c.733G>A	ENSP00000508815.1:p.Ala245Thr
ENST00000693639.1:c.726G>A	ENSP00000510223.1:n.726G>A
ENST00000693646.1:c.639G>A	ENSP00000508449.1:n.639G>A
ENST00000352397.10:c.733G>A MANE Select	ENSP00000338461.6:p.Ala245Thr
ENST00000352397.9:c.733G>A	ENSP00000338461.6:p.Ala245Thr
ENST00000361740.8:c.832G>A	ENSP00000354468.4:p.Ala278Thr
ENST00000402438.5:c.664G>A	ENSP00000385679.1:p.Ala222Thr
ENST00000407332.5:c.664G>A	ENSP00000384457.1:p.Ala222Thr
ENST00000407623.7:c.664G>A	ENSP00000384834.3:p.Ala222Thr
ENST00000470741.1:n.2867G>A
NM_000398.6:c.733G>A	NP_000389.1:p.Ala245Thr
NM_001129819.2:c.664G>A	NP_001123291.1:p.Ala222Thr
NM_001171660.1:c.832G>A	NP_001165131.1:p.Ala278Thr
NM_001171661.1:c.664G>A	NP_001165132.1:p.Ala222Thr
NM_007326.4:c.664G>A	NP_015565.1:p.Ala222Thr
NM_000398.7:c.733G>A MANE Select	NP_000389.1:p.Ala245Thr
NM_001171660.2:c.832G>A	NP_001165131.1:p.Ala278Thr