Canonical Allele Identifier: CA411799622

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42628260-G-A
• MyVariant Identifiers: chr22:g.43024266G>A (hg19) ; chr22:g.42628260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628260G>A , CM000684.2:g.42628260G>A	GRCh38
NC_000022.10:g.43024266G>A , CM000684.1:g.43024266G>A	GRCh37
NC_000022.9:g.41354210G>A	NCBI36
NG_012194.1:g.26140C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.355C>T	ENSP00000354468.5:p.Pro119Ser
ENST00000402438.6:c.286C>T	ENSP00000385679.1:p.Pro96Ser
ENST00000407332.6:c.373C>T	ENSP00000384457.2:p.Pro125Ser
ENST00000407623.8:c.286C>T	ENSP00000384834.3:p.Pro96Ser
ENST00000438270.2:c.286C>T	ENSP00000403439.2:p.Pro96Ser
ENST00000684963.1:n.1632C>T
ENST00000686129.1:c.286C>T	ENSP00000508623.1:p.Pro96Ser
ENST00000686523.1:c.*304C>T	ENSP00000508940.1:n.*304C>T
ENST00000687183.1:n.416C>T
ENST00000687198.1:c.286C>T	ENSP00000508492.1:p.Pro96Ser
ENST00000688117.1:c.454C>T	ENSP00000509015.1:p.Pro152Ser
ENST00000688244.1:c.333+2622C>T	ENSP00000510355.1:n.333+2622C>T
ENST00000689001.1:n.762C>T
ENST00000689195.1:c.355C>T	ENSP00000509895.1:p.Pro119Ser
ENST00000689239.1:n.522C>T
ENST00000689795.1:n.517C>T
ENST00000690835.1:c.355C>T	ENSP00000509038.1:p.Pro119Ser
ENST00000690993.1:n.432C>T
ENST00000691295.1:c.334-572C>T	ENSP00000508706.1:n.334-572C>T
ENST00000691918.1:c.334C>T	ENSP00000509525.1:p.Pro112Ser
ENST00000692152.1:c.286C>T	ENSP00000509317.1:p.Pro96Ser
ENST00000692344.1:n.379C>T
ENST00000693157.1:c.275C>T	ENSP00000510610.1:n.275C>T
ENST00000693363.1:c.355C>T	ENSP00000510411.1:p.Pro119Ser
ENST00000693367.1:c.355C>T	ENSP00000508815.1:p.Pro119Ser
ENST00000693639.1:c.348C>T	ENSP00000510223.1:p.Ile116=
ENST00000693646.1:c.261C>T	ENSP00000508449.1:p.Ile87=
ENST00000352397.10:c.355C>T MANE Select	ENSP00000338461.6:p.Pro119Ser
ENST00000352397.9:c.355C>T	ENSP00000338461.6:p.Pro119Ser
ENST00000361740.8:c.454C>T	ENSP00000354468.4:p.Pro152Ser
ENST00000402438.5:c.286C>T	ENSP00000385679.1:p.Pro96Ser
ENST00000407332.5:c.286C>T	ENSP00000384457.1:p.Pro96Ser
ENST00000407623.7:c.286C>T	ENSP00000384834.3:p.Pro96Ser
ENST00000438270.1:c.286C>T	ENSP00000403439.1:p.Pro96Ser
ENST00000470741.1:n.2489C>T
NM_000398.6:c.355C>T	NP_000389.1:p.Pro119Ser
NM_001129819.2:c.286C>T	NP_001123291.1:p.Pro96Ser
NM_001171660.1:c.454C>T	NP_001165131.1:p.Pro152Ser
NM_001171661.1:c.286C>T	NP_001165132.1:p.Pro96Ser
NM_007326.4:c.286C>T	NP_015565.1:p.Pro96Ser
NM_000398.7:c.355C>T MANE Select	NP_000389.1:p.Pro119Ser
NM_001171660.2:c.454C>T	NP_001165131.1:p.Pro152Ser