Canonical Allele Identifier: CA411799661

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024272T>A (hg19) ; chr22:g.42628266T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628266T>A , CM000684.2:g.42628266T>A	GRCh38
NC_000022.10:g.43024272T>A , CM000684.1:g.43024272T>A	GRCh37
NC_000022.9:g.41354216T>A	NCBI36
NG_012194.1:g.26134A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.349A>T	ENSP00000354468.5:p.Thr117Ser
ENST00000402438.6:c.280A>T	ENSP00000385679.1:p.Thr94Ser
ENST00000407332.6:c.367A>T	ENSP00000384457.2:p.Thr123Ser
ENST00000407623.8:c.280A>T	ENSP00000384834.3:p.Thr94Ser
ENST00000438270.2:c.280A>T	ENSP00000403439.2:p.Thr94Ser
ENST00000684963.1:n.1626A>T
ENST00000686129.1:c.280A>T	ENSP00000508623.1:p.Thr94Ser
ENST00000686523.1:c.*298A>T	ENSP00000508940.1:n.*298A>T
ENST00000687183.1:n.410A>T
ENST00000687198.1:c.280A>T	ENSP00000508492.1:p.Thr94Ser
ENST00000688117.1:c.448A>T	ENSP00000509015.1:p.Thr150Ser
ENST00000688244.1:c.333+2616A>T	ENSP00000510355.1:n.333+2616A>T
ENST00000689001.1:n.756A>T
ENST00000689195.1:c.349A>T	ENSP00000509895.1:p.Thr117Ser
ENST00000689239.1:n.516A>T
ENST00000689795.1:n.511A>T
ENST00000690835.1:c.349A>T	ENSP00000509038.1:p.Thr117Ser
ENST00000690993.1:n.426A>T
ENST00000691295.1:c.334-578A>T	ENSP00000508706.1:n.334-578A>T
ENST00000691918.1:c.328A>T	ENSP00000509525.1:p.Thr110Ser
ENST00000692152.1:c.280A>T	ENSP00000509317.1:p.Thr94Ser
ENST00000692344.1:n.373A>T
ENST00000693157.1:c.269A>T	ENSP00000510610.1:n.269A>T
ENST00000693363.1:c.349A>T	ENSP00000510411.1:p.Thr117Ser
ENST00000693367.1:c.349A>T	ENSP00000508815.1:p.Thr117Ser
ENST00000693639.1:c.342A>T	ENSP00000510223.1:p.Thr114=
ENST00000693646.1:c.255A>T	ENSP00000508449.1:p.Thr85=
ENST00000352397.10:c.349A>T MANE Select	ENSP00000338461.6:p.Thr117Ser
ENST00000352397.9:c.349A>T	ENSP00000338461.6:p.Thr117Ser
ENST00000361740.8:c.448A>T	ENSP00000354468.4:p.Thr150Ser
ENST00000402438.5:c.280A>T	ENSP00000385679.1:p.Thr94Ser
ENST00000407332.5:c.280A>T	ENSP00000384457.1:p.Thr94Ser
ENST00000407623.7:c.280A>T	ENSP00000384834.3:p.Thr94Ser
ENST00000438270.1:c.280A>T	ENSP00000403439.1:p.Thr94Ser
ENST00000470741.1:n.2483A>T
NM_000398.6:c.349A>T	NP_000389.1:p.Thr117Ser
NM_001129819.2:c.280A>T	NP_001123291.1:p.Thr94Ser
NM_001171660.1:c.448A>T	NP_001165131.1:p.Thr150Ser
NM_001171661.1:c.280A>T	NP_001165132.1:p.Thr94Ser
NM_007326.4:c.280A>T	NP_015565.1:p.Thr94Ser
NM_000398.7:c.349A>T MANE Select	NP_000389.1:p.Thr117Ser
NM_001171660.2:c.448A>T	NP_001165131.1:p.Thr150Ser