Canonical Allele Identifier: CA514812844

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1569316939
• gnomAD v4: 22-42623829-T-C
• MyVariant Identifiers: chr22:g.43019835T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623829T>C , CM000684.2:g.42623829T>C	GRCh38
NC_000022.10:g.43019835T>C , CM000684.1:g.43019835T>C	GRCh37
NC_000022.9:g.41349779T>C	NCBI36
NG_012194.1:g.30571A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.825A>G	ENSP00000354468.5:p.Ala275=
ENST00000402438.6:c.624A>G	ENSP00000385679.1:p.Ala208=
ENST00000407332.6:c.711A>G	ENSP00000384457.2:p.Ala237=
ENST00000407623.8:c.624A>G	ENSP00000384834.3:p.Ala208=
ENST00000617178.5:c.230A>G
ENST00000684963.1:n.2433A>G
ENST00000685184.1:n.285A>G
ENST00000686523.1:c.*642A>G	ENSP00000508940.1:n.*642A>G
ENST00000687183.1:n.969A>G
ENST00000687198.1:c.624A>G	ENSP00000508492.1:p.Ala208=
ENST00000688117.1:c.792A>G	ENSP00000509015.1:p.Ala264=
ENST00000688244.1:c.393A>G	ENSP00000510355.1:p.Ala131=
ENST00000689001.1:n.1315A>G
ENST00000689195.1:c.609A>G	ENSP00000509895.1:p.Ala203=
ENST00000689239.1:n.860A>G
ENST00000689795.1:n.954A>G
ENST00000690835.1:c.*72A>G	ENSP00000509038.1:n.*72A>G
ENST00000690993.1:n.1448A>G
ENST00000691295.1:c.*176A>G	ENSP00000508706.1:n.*176A>G
ENST00000691918.1:c.983A>G	ENSP00000509525.1:n.983A>G
ENST00000692152.1:c.624A>G	ENSP00000509317.1:p.Ala208=
ENST00000692344.1:n.1180A>G
ENST00000693363.1:c.735A>G	ENSP00000510411.1:p.Ala245=
ENST00000693367.1:c.693A>G	ENSP00000508815.1:p.Ala231=
ENST00000693639.1:c.686A>G	ENSP00000510223.1:n.686A>G
ENST00000693646.1:c.599A>G	ENSP00000508449.1:n.599A>G
ENST00000352397.10:c.693A>G MANE Select	ENSP00000338461.6:p.Ala231=
ENST00000352397.9:c.693A>G	ENSP00000338461.6:p.Ala231=
ENST00000361740.8:c.792A>G	ENSP00000354468.4:p.Ala264=
ENST00000402438.5:c.624A>G	ENSP00000385679.1:p.Ala208=
ENST00000407332.5:c.624A>G	ENSP00000384457.1:p.Ala208=
ENST00000407623.7:c.624A>G	ENSP00000384834.3:p.Ala208=
ENST00000470741.1:n.2827A>G
NM_000398.6:c.693A>G	NP_000389.1:p.Ala231=
NM_001129819.2:c.624A>G	NP_001123291.1:p.Ala208=
NM_001171660.1:c.792A>G	NP_001165131.1:p.Ala264=
NM_001171661.1:c.624A>G	NP_001165132.1:p.Ala208=
NM_007326.4:c.624A>G	NP_015565.1:p.Ala208=
NM_000398.7:c.693A>G MANE Select	NP_000389.1:p.Ala231=
NM_001171660.2:c.792A>G	NP_001165131.1:p.Ala264=