Canonical Allele Identifier: CA411799023

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1388998071
• gnomAD v2: 22-43024170-A-G
• gnomAD v4: 22-42628164-A-G
• MyVariant Identifiers: chr22:g.43024170A>G (hg19) ; chr22:g.42628164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628164A>G , CM000684.2:g.42628164A>G	GRCh38
NC_000022.10:g.43024170A>G , CM000684.1:g.43024170A>G	GRCh37
NC_000022.9:g.41354114A>G	NCBI36
NG_012194.1:g.26236T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.451T>C	ENSP00000354468.5:p.Tyr151His
ENST00000402438.6:c.382T>C	ENSP00000385679.1:p.Tyr128His
ENST00000407332.6:c.469T>C	ENSP00000384457.2:p.Tyr157His
ENST00000407623.8:c.382T>C	ENSP00000384834.3:p.Tyr128His
ENST00000438270.2:c.382T>C	ENSP00000403439.2:p.Tyr128His
ENST00000684963.1:n.1728T>C
ENST00000686129.1:c.382T>C	ENSP00000508623.1:p.Tyr128His
ENST00000686523.1:c.*400T>C	ENSP00000508940.1:n.*400T>C
ENST00000687183.1:n.512T>C
ENST00000687198.1:c.382T>C	ENSP00000508492.1:p.Tyr128His
ENST00000688117.1:c.550T>C	ENSP00000509015.1:p.Tyr184His
ENST00000688244.1:c.333+2718T>C	ENSP00000510355.1:n.333+2718T>C
ENST00000689001.1:n.858T>C
ENST00000689195.1:c.451T>C	ENSP00000509895.1:p.Tyr151His
ENST00000689239.1:n.618T>C
ENST00000689795.1:n.613T>C
ENST00000690835.1:c.451T>C	ENSP00000509038.1:p.Tyr151His
ENST00000690993.1:n.528T>C
ENST00000691295.1:c.334-476T>C	ENSP00000508706.1:n.334-476T>C
ENST00000691918.1:c.430T>C	ENSP00000509525.1:p.Tyr144His
ENST00000692152.1:c.382T>C	ENSP00000509317.1:p.Tyr128His
ENST00000692344.1:n.475T>C
ENST00000693157.1:c.371T>C	ENSP00000510610.1:n.371T>C
ENST00000693363.1:c.451T>C	ENSP00000510411.1:p.Tyr151His
ENST00000693367.1:c.451T>C	ENSP00000508815.1:p.Tyr151His
ENST00000693639.1:c.444T>C	ENSP00000510223.1:p.Ser148=
ENST00000693646.1:c.357T>C	ENSP00000508449.1:p.Ser119=
ENST00000352397.10:c.451T>C MANE Select	ENSP00000338461.6:p.Tyr151His
ENST00000352397.9:c.451T>C	ENSP00000338461.6:p.Tyr151His
ENST00000361740.8:c.550T>C	ENSP00000354468.4:p.Tyr184His
ENST00000402438.5:c.382T>C	ENSP00000385679.1:p.Tyr128His
ENST00000407332.5:c.382T>C	ENSP00000384457.1:p.Tyr128His
ENST00000407623.7:c.382T>C	ENSP00000384834.3:p.Tyr128His
ENST00000438270.1:c.382T>C	ENSP00000403439.1:p.Tyr128His
ENST00000470741.1:n.2585T>C
NM_000398.6:c.451T>C	NP_000389.1:p.Tyr151His
NM_001129819.2:c.382T>C	NP_001123291.1:p.Tyr128His
NM_001171660.1:c.550T>C	NP_001165131.1:p.Tyr184His
NM_001171661.1:c.382T>C	NP_001165132.1:p.Tyr128His
NM_007326.4:c.382T>C	NP_015565.1:p.Tyr128His
NM_000398.7:c.451T>C MANE Select	NP_000389.1:p.Tyr151His
NM_001171660.2:c.550T>C	NP_001165131.1:p.Tyr184His