Canonical Allele Identifier: CA514814290

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43023349A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627343A>G , CM000684.2:g.42627343A>G	GRCh38
NC_000022.10:g.43023349A>G , CM000684.1:g.43023349A>G	GRCh37
NC_000022.9:g.41353293A>G	NCBI36
NG_012194.1:g.27057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.726T>C	ENSP00000354468.5:p.Pro242=
ENST00000402438.6:c.525T>C	ENSP00000385679.1:p.Pro175=
ENST00000407332.6:c.612T>C	ENSP00000384457.2:p.Pro204=
ENST00000407623.8:c.525T>C	ENSP00000384834.3:p.Pro175=
ENST00000617178.5:c.131T>C
ENST00000684963.1:n.2334T>C
ENST00000686523.1:c.*543T>C	ENSP00000508940.1:n.*543T>C
ENST00000687183.1:n.870T>C
ENST00000687198.1:c.525T>C	ENSP00000508492.1:p.Pro175=
ENST00000688117.1:c.693T>C	ENSP00000509015.1:p.Pro231=
ENST00000688244.1:c.334-3455T>C	ENSP00000510355.1:n.334-3455T>C
ENST00000689001.1:n.1216T>C
ENST00000689195.1:c.510T>C	ENSP00000509895.1:p.Pro170=
ENST00000689239.1:n.761T>C
ENST00000689795.1:n.756T>C
ENST00000690835.1:c.594T>C	ENSP00000509038.1:p.Pro198=
ENST00000690993.1:n.1349T>C
ENST00000691295.1:c.*77T>C	ENSP00000508706.1:n.*77T>C
ENST00000691918.1:c.573T>C	ENSP00000509525.1:p.Pro191=
ENST00000692152.1:c.525T>C	ENSP00000509317.1:p.Pro175=
ENST00000692344.1:n.1081T>C
ENST00000693363.1:c.636T>C	ENSP00000510411.1:p.Pro212=
ENST00000693367.1:c.594T>C	ENSP00000508815.1:p.Pro198=
ENST00000693639.1:c.587T>C	ENSP00000510223.1:n.587T>C
ENST00000693646.1:c.500T>C	ENSP00000508449.1:n.500T>C
ENST00000352397.10:c.594T>C MANE Select	ENSP00000338461.6:p.Pro198=
ENST00000352397.9:c.594T>C	ENSP00000338461.6:p.Pro198=
ENST00000361740.8:c.693T>C	ENSP00000354468.4:p.Pro231=
ENST00000402438.5:c.525T>C	ENSP00000385679.1:p.Pro175=
ENST00000407332.5:c.525T>C	ENSP00000384457.1:p.Pro175=
ENST00000407623.7:c.525T>C	ENSP00000384834.3:p.Pro175=
ENST00000470741.1:n.2728T>C
NM_000398.6:c.594T>C	NP_000389.1:p.Pro198=
NM_001129819.2:c.525T>C	NP_001123291.1:p.Pro175=
NM_001171660.1:c.693T>C	NP_001165131.1:p.Pro231=
NM_001171661.1:c.525T>C	NP_001165132.1:p.Pro175=
NM_007326.4:c.525T>C	NP_015565.1:p.Pro175=
NM_000398.7:c.594T>C MANE Select	NP_000389.1:p.Pro198=
NM_001171660.2:c.693T>C	NP_001165131.1:p.Pro231=