Canonical Allele Identifier: CA411800408

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43026921A>T (hg19) ; chr22:g.42630915A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630915A>T , CM000684.2:g.42630915A>T	GRCh38
NC_000022.10:g.43026921A>T , CM000684.1:g.43026921A>T	GRCh37
NC_000022.9:g.41356865A>T	NCBI36
NG_012194.1:g.23485T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.300T>A	ENSP00000354468.5:p.Asp100Glu
ENST00000402438.6:c.231T>A	ENSP00000385679.1:p.Asp77Glu
ENST00000407332.6:c.318T>A	ENSP00000384457.2:p.Asp106Glu
ENST00000407623.8:c.231T>A	ENSP00000384834.3:p.Asp77Glu
ENST00000438270.2:c.231T>A	ENSP00000403439.2:p.Asp77Glu
ENST00000466276.2:n.367T>A
ENST00000686129.1:c.231T>A	ENSP00000508623.1:p.Asp77Glu
ENST00000686523.1:c.*249T>A	ENSP00000508940.1:n.*249T>A
ENST00000687183.1:n.361T>A
ENST00000687198.1:c.231T>A	ENSP00000508492.1:p.Asp77Glu
ENST00000688117.1:c.399T>A	ENSP00000509015.1:p.Asp133Glu
ENST00000688244.1:c.300T>A	ENSP00000510355.1:p.Asp100Glu
ENST00000689001.1:n.707T>A
ENST00000689195.1:c.300T>A	ENSP00000509895.1:p.Asp100Glu
ENST00000689239.1:n.467T>A
ENST00000689795.1:n.462T>A
ENST00000690835.1:c.300T>A	ENSP00000509038.1:p.Asp100Glu
ENST00000690993.1:n.377T>A
ENST00000691295.1:c.300T>A	ENSP00000508706.1:p.Asp100Glu
ENST00000691918.1:c.279T>A	ENSP00000509525.1:p.Asp93Glu
ENST00000692152.1:c.231T>A	ENSP00000509317.1:p.Asp77Glu
ENST00000692344.1:n.324T>A
ENST00000693157.1:c.220T>A	ENSP00000510610.1:n.220T>A
ENST00000693363.1:c.300T>A	ENSP00000510411.1:p.Asp100Glu
ENST00000693367.1:c.300T>A	ENSP00000508815.1:p.Asp100Glu
ENST00000693639.1:c.293T>A	ENSP00000510223.1:p.Met98Lys
ENST00000693646.1:c.206T>A	ENSP00000508449.1:p.Met69Lys
ENST00000693716.1:n.528T>A
ENST00000352397.10:c.300T>A MANE Select	ENSP00000338461.6:p.Asp100Glu
ENST00000352397.9:c.300T>A	ENSP00000338461.6:p.Asp100Glu
ENST00000361740.8:c.399T>A	ENSP00000354468.4:p.Asp133Glu
ENST00000402438.5:c.231T>A	ENSP00000385679.1:p.Asp77Glu
ENST00000407332.5:c.231T>A	ENSP00000384457.1:p.Asp77Glu
ENST00000407623.7:c.231T>A	ENSP00000384834.3:p.Asp77Glu
ENST00000438270.1:c.231T>A	ENSP00000403439.1:p.Asp77Glu
ENST00000470741.1:n.2434T>A
NM_000398.6:c.300T>A	NP_000389.1:p.Asp100Glu
NM_001129819.2:c.231T>A	NP_001123291.1:p.Asp77Glu
NM_001171660.1:c.399T>A	NP_001165131.1:p.Asp133Glu
NM_001171661.1:c.231T>A	NP_001165132.1:p.Asp77Glu
NM_007326.4:c.231T>A	NP_015565.1:p.Asp77Glu
NM_000398.7:c.300T>A MANE Select	NP_000389.1:p.Asp100Glu
NM_001171660.2:c.399T>A	NP_001165131.1:p.Asp133Glu