Canonical Allele Identifier: CA411796299

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42623798-C-T
• MyVariant Identifiers: chr22:g.43019804C>T (hg19) ; chr22:g.42623798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623798C>T , CM000684.2:g.42623798C>T	GRCh38
NC_000022.10:g.43019804C>T , CM000684.1:g.43019804C>T	GRCh37
NC_000022.9:g.41349748C>T	NCBI36
NG_012194.1:g.30602G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.856G>A	ENSP00000354468.5:p.Ala286Thr
ENST00000402438.6:c.655G>A	ENSP00000385679.1:p.Ala219Thr
ENST00000407332.6:c.742G>A	ENSP00000384457.2:p.Ala248Thr
ENST00000407623.8:c.655G>A	ENSP00000384834.3:p.Ala219Thr
ENST00000617178.5:c.261G>A
ENST00000684963.1:n.2464G>A
ENST00000685184.1:n.316G>A
ENST00000686523.1:c.*673G>A	ENSP00000508940.1:n.*673G>A
ENST00000687183.1:n.1000G>A
ENST00000687198.1:c.655G>A	ENSP00000508492.1:p.Ala219Thr
ENST00000688117.1:c.823G>A	ENSP00000509015.1:p.Ala275Thr
ENST00000688244.1:c.424G>A	ENSP00000510355.1:p.Ala142Thr
ENST00000689001.1:n.1346G>A
ENST00000689195.1:c.640G>A	ENSP00000509895.1:p.Ala214Thr
ENST00000689239.1:n.891G>A
ENST00000689795.1:n.985G>A
ENST00000690835.1:c.*103G>A	ENSP00000509038.1:n.*103G>A
ENST00000690993.1:n.1479G>A
ENST00000691295.1:c.*207G>A	ENSP00000508706.1:n.*207G>A
ENST00000691918.1:c.1014G>A	ENSP00000509525.1:n.1014G>A
ENST00000692152.1:c.655G>A	ENSP00000509317.1:p.Ala219Thr
ENST00000692344.1:n.1211G>A
ENST00000693363.1:c.766G>A	ENSP00000510411.1:p.Ala256Thr
ENST00000693367.1:c.724G>A	ENSP00000508815.1:p.Ala242Thr
ENST00000693639.1:c.717G>A	ENSP00000510223.1:n.717G>A
ENST00000693646.1:c.630G>A	ENSP00000508449.1:n.630G>A
ENST00000352397.10:c.724G>A MANE Select	ENSP00000338461.6:p.Ala242Thr
ENST00000352397.9:c.724G>A	ENSP00000338461.6:p.Ala242Thr
ENST00000361740.8:c.823G>A	ENSP00000354468.4:p.Ala275Thr
ENST00000402438.5:c.655G>A	ENSP00000385679.1:p.Ala219Thr
ENST00000407332.5:c.655G>A	ENSP00000384457.1:p.Ala219Thr
ENST00000407623.7:c.655G>A	ENSP00000384834.3:p.Ala219Thr
ENST00000470741.1:n.2858G>A
NM_000398.6:c.724G>A	NP_000389.1:p.Ala242Thr
NM_001129819.2:c.655G>A	NP_001123291.1:p.Ala219Thr
NM_001171660.1:c.823G>A	NP_001165131.1:p.Ala275Thr
NM_001171661.1:c.655G>A	NP_001165132.1:p.Ala219Thr
NM_007326.4:c.655G>A	NP_015565.1:p.Ala219Thr
NM_000398.7:c.724G>A MANE Select	NP_000389.1:p.Ala242Thr
NM_001171660.2:c.823G>A	NP_001165131.1:p.Ala275Thr