Canonical Allele Identifier: CA411796644

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623863-G-A
• MyVariant Identifiers: chr22:g.43019869G>A (hg19) ; chr22:g.42623863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623863G>A , CM000684.2:g.42623863G>A	GRCh38
NC_000022.10:g.43019869G>A , CM000684.1:g.43019869G>A	GRCh37
NC_000022.9:g.41349813G>A	NCBI36
NG_012194.1:g.30537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.791C>T	ENSP00000354468.5:p.Pro264Leu
ENST00000402438.6:c.590C>T	ENSP00000385679.1:p.Pro197Leu
ENST00000407332.6:c.677C>T	ENSP00000384457.2:p.Pro226Leu
ENST00000407623.8:c.590C>T	ENSP00000384834.3:p.Pro197Leu
ENST00000617178.5:c.196C>T
ENST00000684963.1:n.2399C>T
ENST00000685184.1:n.251C>T
ENST00000686523.1:c.*608C>T	ENSP00000508940.1:n.*608C>T
ENST00000687183.1:n.935C>T
ENST00000687198.1:c.590C>T	ENSP00000508492.1:p.Pro197Leu
ENST00000688117.1:c.758C>T	ENSP00000509015.1:p.Pro253Leu
ENST00000688244.1:c.359C>T	ENSP00000510355.1:p.Pro120Leu
ENST00000689001.1:n.1281C>T
ENST00000689195.1:c.575C>T	ENSP00000509895.1:p.Pro192Leu
ENST00000689239.1:n.826C>T
ENST00000689795.1:n.920C>T
ENST00000690835.1:c.*38C>T	ENSP00000509038.1:n.*38C>T
ENST00000690993.1:n.1414C>T
ENST00000691295.1:c.*142C>T	ENSP00000508706.1:n.*142C>T
ENST00000691918.1:c.949C>T	ENSP00000509525.1:n.949C>T
ENST00000692152.1:c.590C>T	ENSP00000509317.1:p.Pro197Leu
ENST00000692344.1:n.1146C>T
ENST00000693363.1:c.701C>T	ENSP00000510411.1:p.Pro234Leu
ENST00000693367.1:c.659C>T	ENSP00000508815.1:p.Pro220Leu
ENST00000693639.1:c.652C>T	ENSP00000510223.1:n.652C>T
ENST00000693646.1:c.565C>T	ENSP00000508449.1:n.565C>T
ENST00000352397.10:c.659C>T MANE Select	ENSP00000338461.6:p.Pro220Leu
ENST00000352397.9:c.659C>T	ENSP00000338461.6:p.Pro220Leu
ENST00000361740.8:c.758C>T	ENSP00000354468.4:p.Pro253Leu
ENST00000402438.5:c.590C>T	ENSP00000385679.1:p.Pro197Leu
ENST00000407332.5:c.590C>T	ENSP00000384457.1:p.Pro197Leu
ENST00000407623.7:c.590C>T	ENSP00000384834.3:p.Pro197Leu
ENST00000470741.1:n.2793C>T
NM_000398.6:c.659C>T	NP_000389.1:p.Pro220Leu
NM_001129819.2:c.590C>T	NP_001123291.1:p.Pro197Leu
NM_001171660.1:c.758C>T	NP_001165131.1:p.Pro253Leu
NM_001171661.1:c.590C>T	NP_001165132.1:p.Pro197Leu
NM_007326.4:c.590C>T	NP_015565.1:p.Pro197Leu
NM_000398.7:c.659C>T MANE Select	NP_000389.1:p.Pro220Leu
NM_001171660.2:c.758C>T	NP_001165131.1:p.Pro253Leu