Canonical Allele Identifier: CA10269648

Gene: CYB5R3

Linked Data

• dbSNP Id: rs764899974
• ExAC: 22:43023356 T / G
• gnomAD v2: 22-43023356-T-G
• gnomAD v3: 22-42627350-T-G
• gnomAD v4: 22-42627350-T-G
• MyVariant Identifiers: chr22:g.43023356T>G (hg19) ; chr22:g.42627350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627350T>G , CM000684.2:g.42627350T>G	GRCh38
NC_000022.10:g.43023356T>G , CM000684.1:g.43023356T>G	GRCh37
NC_000022.9:g.41353300T>G	NCBI36
NG_012194.1:g.27050A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.719A>C	ENSP00000354468.5:p.Lys240Thr
ENST00000402438.6:c.518A>C	ENSP00000385679.1:p.Lys173Thr
ENST00000407332.6:c.605A>C	ENSP00000384457.2:p.Lys202Thr
ENST00000407623.8:c.518A>C	ENSP00000384834.3:p.Lys173Thr
ENST00000617178.5:c.124A>C
ENST00000684963.1:n.2327A>C
ENST00000686523.1:c.*536A>C	ENSP00000508940.1:n.*536A>C
ENST00000687183.1:n.863A>C
ENST00000687198.1:c.518A>C	ENSP00000508492.1:p.Lys173Thr
ENST00000688117.1:c.686A>C	ENSP00000509015.1:p.Lys229Thr
ENST00000688244.1:c.334-3462A>C	ENSP00000510355.1:n.334-3462A>C
ENST00000689001.1:n.1209A>C
ENST00000689195.1:c.503A>C	ENSP00000509895.1:p.Lys168Thr
ENST00000689239.1:n.754A>C
ENST00000689795.1:n.749A>C
ENST00000690835.1:c.587A>C	ENSP00000509038.1:p.Lys196Thr
ENST00000690993.1:n.1342A>C
ENST00000691295.1:c.*70A>C	ENSP00000508706.1:n.*70A>C
ENST00000691918.1:c.566A>C	ENSP00000509525.1:p.Lys189Thr
ENST00000692152.1:c.518A>C	ENSP00000509317.1:p.Lys173Thr
ENST00000692344.1:n.1074A>C
ENST00000693363.1:c.629A>C	ENSP00000510411.1:p.Lys210Thr
ENST00000693367.1:c.587A>C	ENSP00000508815.1:p.Lys196Thr
ENST00000693639.1:c.580A>C	ENSP00000510223.1:n.580A>C
ENST00000693646.1:c.493A>C	ENSP00000508449.1:n.493A>C
ENST00000352397.10:c.587A>C MANE Select	ENSP00000338461.6:p.Lys196Thr
ENST00000352397.9:c.587A>C	ENSP00000338461.6:p.Lys196Thr
ENST00000361740.8:c.686A>C	ENSP00000354468.4:p.Lys229Thr
ENST00000402438.5:c.518A>C	ENSP00000385679.1:p.Lys173Thr
ENST00000407332.5:c.518A>C	ENSP00000384457.1:p.Lys173Thr
ENST00000407623.7:c.518A>C	ENSP00000384834.3:p.Lys173Thr
ENST00000470741.1:n.2721A>C
NM_000398.6:c.587A>C	NP_000389.1:p.Lys196Thr
NM_001129819.2:c.518A>C	NP_001123291.1:p.Lys173Thr
NM_001171660.1:c.686A>C	NP_001165131.1:p.Lys229Thr
NM_001171661.1:c.518A>C	NP_001165132.1:p.Lys173Thr
NM_007326.4:c.518A>C	NP_015565.1:p.Lys173Thr
NM_000398.7:c.587A>C MANE Select	NP_000389.1:p.Lys196Thr
NM_001171660.2:c.686A>C	NP_001165131.1:p.Lys229Thr