Canonical Allele Identifier: CA514813056

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623868-C-G
• MyVariant Identifiers: chr22:g.43019874C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623868C>G , CM000684.2:g.42623868C>G	GRCh38
NC_000022.10:g.43019874C>G , CM000684.1:g.43019874C>G	GRCh37
NC_000022.9:g.41349818C>G	NCBI36
NG_012194.1:g.30532G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.786G>C	ENSP00000354468.5:p.Leu262=
ENST00000402438.6:c.585G>C	ENSP00000385679.1:p.Leu195=
ENST00000407332.6:c.672G>C	ENSP00000384457.2:p.Leu224=
ENST00000407623.8:c.585G>C	ENSP00000384834.3:p.Leu195=
ENST00000617178.5:c.191G>C
ENST00000684963.1:n.2394G>C
ENST00000685184.1:n.246G>C
ENST00000686523.1:c.*603G>C	ENSP00000508940.1:n.*603G>C
ENST00000687183.1:n.930G>C
ENST00000687198.1:c.585G>C	ENSP00000508492.1:p.Leu195=
ENST00000688117.1:c.753G>C	ENSP00000509015.1:p.Leu251=
ENST00000688244.1:c.354G>C	ENSP00000510355.1:p.Leu118=
ENST00000689001.1:n.1276G>C
ENST00000689195.1:c.570G>C	ENSP00000509895.1:p.Leu190=
ENST00000689239.1:n.821G>C
ENST00000689795.1:n.915G>C
ENST00000690835.1:c.*33G>C	ENSP00000509038.1:n.*33G>C
ENST00000690993.1:n.1409G>C
ENST00000691295.1:c.*137G>C	ENSP00000508706.1:n.*137G>C
ENST00000691918.1:c.944G>C	ENSP00000509525.1:n.944G>C
ENST00000692152.1:c.585G>C	ENSP00000509317.1:p.Leu195=
ENST00000692344.1:n.1141G>C
ENST00000693363.1:c.696G>C	ENSP00000510411.1:p.Leu232=
ENST00000693367.1:c.654G>C	ENSP00000508815.1:p.Leu218=
ENST00000693639.1:c.647G>C	ENSP00000510223.1:n.647G>C
ENST00000693646.1:c.560G>C	ENSP00000508449.1:n.560G>C
ENST00000352397.10:c.654G>C MANE Select	ENSP00000338461.6:p.Leu218=
ENST00000352397.9:c.654G>C	ENSP00000338461.6:p.Leu218=
ENST00000361740.8:c.753G>C	ENSP00000354468.4:p.Leu251=
ENST00000402438.5:c.585G>C	ENSP00000385679.1:p.Leu195=
ENST00000407332.5:c.585G>C	ENSP00000384457.1:p.Leu195=
ENST00000407623.7:c.585G>C	ENSP00000384834.3:p.Leu195=
ENST00000470741.1:n.2788G>C
NM_000398.6:c.654G>C	NP_000389.1:p.Leu218=
NM_001129819.2:c.585G>C	NP_001123291.1:p.Leu195=
NM_001171660.1:c.753G>C	NP_001165131.1:p.Leu251=
NM_001171661.1:c.585G>C	NP_001165132.1:p.Leu195=
NM_007326.4:c.585G>C	NP_015565.1:p.Leu195=
NM_000398.7:c.654G>C MANE Select	NP_000389.1:p.Leu218=
NM_001171660.2:c.753G>C	NP_001165131.1:p.Leu251=