Canonical Allele Identifier: CA411800261

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43026890T>A (hg19) ; chr22:g.42630884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630884T>A , CM000684.2:g.42630884T>A	GRCh38
NC_000022.10:g.43026890T>A , CM000684.1:g.43026890T>A	GRCh37
NC_000022.9:g.41356834T>A	NCBI36
NG_012194.1:g.23516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.331A>T	ENSP00000354468.5:p.Lys111Ter
ENST00000402438.6:c.262A>T	ENSP00000385679.1:p.Lys88Ter
ENST00000407332.6:c.349A>T	ENSP00000384457.2:p.Lys117Ter
ENST00000407623.8:c.262A>T	ENSP00000384834.3:p.Lys88Ter
ENST00000438270.2:c.262A>T	ENSP00000403439.2:p.Lys88Ter
ENST00000466276.2:n.398A>T
ENST00000686129.1:c.262A>T	ENSP00000508623.1:p.Lys88Ter
ENST00000686523.1:c.*280A>T	ENSP00000508940.1:n.*280A>T
ENST00000687183.1:n.392A>T
ENST00000687198.1:c.262A>T	ENSP00000508492.1:p.Lys88Ter
ENST00000688117.1:c.430A>T	ENSP00000509015.1:p.Lys144Ter
ENST00000688244.1:c.331A>T	ENSP00000510355.1:p.Lys111Ter
ENST00000689001.1:n.738A>T
ENST00000689195.1:c.331A>T	ENSP00000509895.1:p.Lys111Ter
ENST00000689239.1:n.498A>T
ENST00000689795.1:n.493A>T
ENST00000690835.1:c.331A>T	ENSP00000509038.1:p.Lys111Ter
ENST00000690993.1:n.408A>T
ENST00000691295.1:c.331A>T	ENSP00000508706.1:p.Lys111Ter
ENST00000691918.1:c.310A>T	ENSP00000509525.1:p.Lys104Ter
ENST00000692152.1:c.262A>T	ENSP00000509317.1:p.Lys88Ter
ENST00000692344.1:n.355A>T
ENST00000693157.1:c.251A>T	ENSP00000510610.1:n.251A>T
ENST00000693363.1:c.331A>T	ENSP00000510411.1:p.Lys111Ter
ENST00000693367.1:c.331A>T	ENSP00000508815.1:p.Lys111Ter
ENST00000693639.1:c.324A>T	ENSP00000510223.1:p.Ser108=
ENST00000693646.1:c.237A>T	ENSP00000508449.1:p.Ser79=
ENST00000352397.10:c.331A>T MANE Select	ENSP00000338461.6:p.Lys111Ter
ENST00000352397.9:c.331A>T	ENSP00000338461.6:p.Lys111Ter
ENST00000361740.8:c.430A>T	ENSP00000354468.4:p.Lys144Ter
ENST00000402438.5:c.262A>T	ENSP00000385679.1:p.Lys88Ter
ENST00000407332.5:c.262A>T	ENSP00000384457.1:p.Lys88Ter
ENST00000407623.7:c.262A>T	ENSP00000384834.3:p.Lys88Ter
ENST00000438270.1:c.262A>T	ENSP00000403439.1:p.Lys88Ter
ENST00000470741.1:n.2465A>T
NM_000398.6:c.331A>T	NP_000389.1:p.Lys111Ter
NM_001129819.2:c.262A>T	NP_001123291.1:p.Lys88Ter
NM_001171660.1:c.430A>T	NP_001165131.1:p.Lys144Ter
NM_001171661.1:c.262A>T	NP_001165132.1:p.Lys88Ter
NM_007326.4:c.262A>T	NP_015565.1:p.Lys88Ter
NM_000398.7:c.331A>T MANE Select	NP_000389.1:p.Lys111Ter
NM_001171660.2:c.430A>T	NP_001165131.1:p.Lys144Ter