Canonical Allele Identifier: CA514816348

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628231-A-G
• MyVariant Identifiers: chr22:g.43024237A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628231A>G , CM000684.2:g.42628231A>G	GRCh38
NC_000022.10:g.43024237A>G , CM000684.1:g.43024237A>G	GRCh37
NC_000022.9:g.41354181A>G	NCBI36
NG_012194.1:g.26169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.384T>C	ENSP00000354468.5:p.Ser128=
ENST00000402438.6:c.315T>C	ENSP00000385679.1:p.Ser105=
ENST00000407332.6:c.402T>C	ENSP00000384457.2:p.Ser134=
ENST00000407623.8:c.315T>C	ENSP00000384834.3:p.Ser105=
ENST00000438270.2:c.315T>C	ENSP00000403439.2:p.Ser105=
ENST00000684963.1:n.1661T>C
ENST00000686129.1:c.315T>C	ENSP00000508623.1:p.Ser105=
ENST00000686523.1:c.*333T>C	ENSP00000508940.1:n.*333T>C
ENST00000687183.1:n.445T>C
ENST00000687198.1:c.315T>C	ENSP00000508492.1:p.Ser105=
ENST00000688117.1:c.483T>C	ENSP00000509015.1:p.Ser161=
ENST00000688244.1:c.333+2651T>C	ENSP00000510355.1:n.333+2651T>C
ENST00000689001.1:n.791T>C
ENST00000689195.1:c.384T>C	ENSP00000509895.1:p.Ser128=
ENST00000689239.1:n.551T>C
ENST00000689795.1:n.546T>C
ENST00000690835.1:c.384T>C	ENSP00000509038.1:p.Ser128=
ENST00000690993.1:n.461T>C
ENST00000691295.1:c.334-543T>C	ENSP00000508706.1:n.334-543T>C
ENST00000691918.1:c.363T>C	ENSP00000509525.1:p.Ser121=
ENST00000692152.1:c.315T>C	ENSP00000509317.1:p.Ser105=
ENST00000692344.1:n.408T>C
ENST00000693157.1:c.304T>C	ENSP00000510610.1:n.304T>C
ENST00000693363.1:c.384T>C	ENSP00000510411.1:p.Ser128=
ENST00000693367.1:c.384T>C	ENSP00000508815.1:p.Ser128=
ENST00000693639.1:c.377T>C	ENSP00000510223.1:p.Leu126Pro
ENST00000693646.1:c.290T>C	ENSP00000508449.1:p.Leu97Pro
ENST00000352397.10:c.384T>C MANE Select	ENSP00000338461.6:p.Ser128=
ENST00000352397.9:c.384T>C	ENSP00000338461.6:p.Ser128=
ENST00000361740.8:c.483T>C	ENSP00000354468.4:p.Ser161=
ENST00000402438.5:c.315T>C	ENSP00000385679.1:p.Ser105=
ENST00000407332.5:c.315T>C	ENSP00000384457.1:p.Ser105=
ENST00000407623.7:c.315T>C	ENSP00000384834.3:p.Ser105=
ENST00000438270.1:c.315T>C	ENSP00000403439.1:p.Ser105=
ENST00000470741.1:n.2518T>C
NM_000398.6:c.384T>C	NP_000389.1:p.Ser128=
NM_001129819.2:c.315T>C	NP_001123291.1:p.Ser105=
NM_001171660.1:c.483T>C	NP_001165131.1:p.Ser161=
NM_001171661.1:c.315T>C	NP_001165132.1:p.Ser105=
NM_007326.4:c.315T>C	NP_015565.1:p.Ser105=
NM_000398.7:c.384T>C MANE Select	NP_000389.1:p.Ser128=
NM_001171660.2:c.483T>C	NP_001165131.1:p.Ser161=