Canonical Allele Identifier: CA411797685

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023341T>A (hg19) ; chr22:g.42627335T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627335T>A , CM000684.2:g.42627335T>A	GRCh38
NC_000022.10:g.43023341T>A , CM000684.1:g.43023341T>A	GRCh37
NC_000022.9:g.41353285T>A	NCBI36
NG_012194.1:g.27065A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.734A>T	ENSP00000354468.5:p.His245Leu
ENST00000402438.6:c.533A>T	ENSP00000385679.1:p.His178Leu
ENST00000407332.6:c.620A>T	ENSP00000384457.2:p.His207Leu
ENST00000407623.8:c.533A>T	ENSP00000384834.3:p.His178Leu
ENST00000617178.5:c.139A>T
ENST00000684963.1:n.2342A>T
ENST00000686523.1:c.*551A>T	ENSP00000508940.1:n.*551A>T
ENST00000687183.1:n.878A>T
ENST00000687198.1:c.533A>T	ENSP00000508492.1:p.His178Leu
ENST00000688117.1:c.701A>T	ENSP00000509015.1:p.His234Leu
ENST00000688244.1:c.334-3447A>T	ENSP00000510355.1:n.334-3447A>T
ENST00000689001.1:n.1224A>T
ENST00000689195.1:c.518A>T	ENSP00000509895.1:p.His173Leu
ENST00000689239.1:n.769A>T
ENST00000689795.1:n.764A>T
ENST00000690835.1:c.602A>T	ENSP00000509038.1:p.His201Leu
ENST00000690993.1:n.1357A>T
ENST00000691295.1:c.*85A>T	ENSP00000508706.1:n.*85A>T
ENST00000691918.1:c.581A>T	ENSP00000509525.1:p.His194Leu
ENST00000692152.1:c.533A>T	ENSP00000509317.1:p.His178Leu
ENST00000692344.1:n.1089A>T
ENST00000693363.1:c.644A>T	ENSP00000510411.1:p.His215Leu
ENST00000693367.1:c.602A>T	ENSP00000508815.1:p.His201Leu
ENST00000693639.1:c.595A>T	ENSP00000510223.1:n.595A>T
ENST00000693646.1:c.508A>T	ENSP00000508449.1:n.508A>T
ENST00000352397.10:c.602A>T MANE Select	ENSP00000338461.6:p.His201Leu
ENST00000352397.9:c.602A>T	ENSP00000338461.6:p.His201Leu
ENST00000361740.8:c.701A>T	ENSP00000354468.4:p.His234Leu
ENST00000402438.5:c.533A>T	ENSP00000385679.1:p.His178Leu
ENST00000407332.5:c.533A>T	ENSP00000384457.1:p.His178Leu
ENST00000407623.7:c.533A>T	ENSP00000384834.3:p.His178Leu
ENST00000470741.1:n.2736A>T
NM_000398.6:c.602A>T	NP_000389.1:p.His201Leu
NM_001129819.2:c.533A>T	NP_001123291.1:p.His178Leu
NM_001171660.1:c.701A>T	NP_001165131.1:p.His234Leu
NM_001171661.1:c.533A>T	NP_001165132.1:p.His178Leu
NM_007326.4:c.533A>T	NP_015565.1:p.His178Leu
NM_000398.7:c.602A>T MANE Select	NP_000389.1:p.His201Leu
NM_001171660.2:c.701A>T	NP_001165131.1:p.His234Leu