Canonical Allele Identifier: CA324700482

Gene: CYB5R3

Linked Data

• dbSNP Id: rs11541434
• MyVariant Identifiers: chr22:g.43024217T>C (hg19) ; chr22:g.42628211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628211T>C , CM000684.2:g.42628211T>C	GRCh38
NC_000022.10:g.43024217T>C , CM000684.1:g.43024217T>C	GRCh37
NC_000022.9:g.41354161T>C	NCBI36
NG_012194.1:g.26189A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.404A>G	ENSP00000354468.5:p.Gln135Arg
ENST00000402438.6:c.335A>G	ENSP00000385679.1:p.Gln112Arg
ENST00000407332.6:c.422A>G	ENSP00000384457.2:p.Gln141Arg
ENST00000407623.8:c.335A>G	ENSP00000384834.3:p.Gln112Arg
ENST00000438270.2:c.335A>G	ENSP00000403439.2:p.Gln112Arg
ENST00000684963.1:n.1681A>G
ENST00000686129.1:c.335A>G	ENSP00000508623.1:p.Gln112Arg
ENST00000686523.1:c.*353A>G	ENSP00000508940.1:n.*353A>G
ENST00000687183.1:n.465A>G
ENST00000687198.1:c.335A>G	ENSP00000508492.1:p.Gln112Arg
ENST00000688117.1:c.503A>G	ENSP00000509015.1:p.Gln168Arg
ENST00000688244.1:c.333+2671A>G	ENSP00000510355.1:n.333+2671A>G
ENST00000689001.1:n.811A>G
ENST00000689195.1:c.404A>G	ENSP00000509895.1:p.Gln135Arg
ENST00000689239.1:n.571A>G
ENST00000689795.1:n.566A>G
ENST00000690835.1:c.404A>G	ENSP00000509038.1:p.Gln135Arg
ENST00000690993.1:n.481A>G
ENST00000691295.1:c.334-523A>G	ENSP00000508706.1:n.334-523A>G
ENST00000691918.1:c.383A>G	ENSP00000509525.1:p.Gln128Arg
ENST00000692152.1:c.335A>G	ENSP00000509317.1:p.Gln112Arg
ENST00000692344.1:n.428A>G
ENST00000693157.1:c.324A>G	ENSP00000510610.1:n.324A>G
ENST00000693363.1:c.404A>G	ENSP00000510411.1:p.Gln135Arg
ENST00000693367.1:c.404A>G	ENSP00000508815.1:p.Gln135Arg
ENST00000693639.1:c.397A>G	ENSP00000510223.1:p.Arg133Gly
ENST00000693646.1:c.310A>G	ENSP00000508449.1:p.Arg104Gly
ENST00000352397.10:c.404A>G MANE Select	ENSP00000338461.6:p.Gln135Arg
ENST00000352397.9:c.404A>G	ENSP00000338461.6:p.Gln135Arg
ENST00000361740.8:c.503A>G	ENSP00000354468.4:p.Gln168Arg
ENST00000402438.5:c.335A>G	ENSP00000385679.1:p.Gln112Arg
ENST00000407332.5:c.335A>G	ENSP00000384457.1:p.Gln112Arg
ENST00000407623.7:c.335A>G	ENSP00000384834.3:p.Gln112Arg
ENST00000438270.1:c.335A>G	ENSP00000403439.1:p.Gln112Arg
ENST00000470741.1:n.2538A>G
NM_000398.6:c.404A>G	NP_000389.1:p.Gln135Arg
NM_001129819.2:c.335A>G	NP_001123291.1:p.Gln112Arg
NM_001171660.1:c.503A>G	NP_001165131.1:p.Gln168Arg
NM_001171661.1:c.335A>G	NP_001165132.1:p.Gln112Arg
NM_007326.4:c.335A>G	NP_015565.1:p.Gln112Arg
NM_000398.7:c.404A>G MANE Select	NP_000389.1:p.Gln135Arg
NM_001171660.2:c.503A>G	NP_001165131.1:p.Gln168Arg