Canonical Allele Identifier: CA114081

Gene: CYB5R3

Linked Data

• ClinVar Variation Id: 244
• ClinVar RCV Id: RCV001610285
• dbSNP Id: rs1800457
• ExAC: 22:43024271 G / C
• gnomAD v2: 22-43024271-G-C
• gnomAD v3: 22-42628265-G-C
• gnomAD v4: 22-42628265-G-C
• MyVariant Identifiers: chr22:g.43024271G>C (hg19) ; chr22:g.42628265G>C (hg38)
• PubMed: PMID:9048929 ; PMID:18318771

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628265G>C , CM000684.2:g.42628265G>C	GRCh38
NC_000022.10:g.43024271G>C , CM000684.1:g.43024271G>C	GRCh37
NC_000022.9:g.41354215G>C	NCBI36
NG_012194.1:g.26135C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.350C>G	ENSP00000354468.5:p.Thr117Ser
ENST00000402438.6:c.281C>G	ENSP00000385679.1:p.Thr94Ser
ENST00000407332.6:c.368C>G	ENSP00000384457.2:p.Thr123Ser
ENST00000407623.8:c.281C>G	ENSP00000384834.3:p.Thr94Ser
ENST00000438270.2:c.281C>G	ENSP00000403439.2:p.Thr94Ser
ENST00000684963.1:n.1627C>G
ENST00000686129.1:c.281C>G	ENSP00000508623.1:p.Thr94Ser
ENST00000686523.1:c.*299C>G	ENSP00000508940.1:n.*299C>G
ENST00000687183.1:n.411C>G
ENST00000687198.1:c.281C>G	ENSP00000508492.1:p.Thr94Ser
ENST00000688117.1:c.449C>G	ENSP00000509015.1:p.Thr150Ser
ENST00000688244.1:c.333+2617C>G	ENSP00000510355.1:n.333+2617C>G
ENST00000689001.1:n.757C>G
ENST00000689195.1:c.350C>G	ENSP00000509895.1:p.Thr117Ser
ENST00000689239.1:n.517C>G
ENST00000689795.1:n.512C>G
ENST00000690835.1:c.350C>G	ENSP00000509038.1:p.Thr117Ser
ENST00000690993.1:n.427C>G
ENST00000691295.1:c.334-577C>G	ENSP00000508706.1:n.334-577C>G
ENST00000691918.1:c.329C>G	ENSP00000509525.1:p.Thr110Ser
ENST00000692152.1:c.281C>G	ENSP00000509317.1:p.Thr94Ser
ENST00000692344.1:n.374C>G
ENST00000693157.1:c.270C>G	ENSP00000510610.1:n.270C>G
ENST00000693363.1:c.350C>G	ENSP00000510411.1:p.Thr117Ser
ENST00000693367.1:c.350C>G	ENSP00000508815.1:p.Thr117Ser
ENST00000693639.1:c.343C>G	ENSP00000510223.1:p.Pro115Ala
ENST00000693646.1:c.256C>G	ENSP00000508449.1:p.Pro86Ala
ENST00000352397.10:c.350C>G MANE Select	ENSP00000338461.6:p.Thr117Ser
ENST00000352397.9:c.350C>G	ENSP00000338461.6:p.Thr117Ser
ENST00000361740.8:c.449C>G	ENSP00000354468.4:p.Thr150Ser
ENST00000402438.5:c.281C>G	ENSP00000385679.1:p.Thr94Ser
ENST00000407332.5:c.281C>G	ENSP00000384457.1:p.Thr94Ser
ENST00000407623.7:c.281C>G	ENSP00000384834.3:p.Thr94Ser
ENST00000438270.1:c.281C>G	ENSP00000403439.1:p.Thr94Ser
ENST00000470741.1:n.2484C>G
NM_000398.6:c.350C>G	NP_000389.1:p.Thr117Ser
NM_001129819.2:c.281C>G	NP_001123291.1:p.Thr94Ser
NM_001171660.1:c.449C>G	NP_001165131.1:p.Thr150Ser
NM_001171661.1:c.281C>G	NP_001165132.1:p.Thr94Ser
NM_007326.4:c.281C>G	NP_015565.1:p.Thr94Ser
NM_000398.7:c.350C>G MANE Select	NP_000389.1:p.Thr117Ser
NM_001171660.2:c.449C>G	NP_001165131.1:p.Thr150Ser