Canonical Allele Identifier: CA411799486

Gene: CYB5R3

Linked Data

• MyVariant Identifiers: chr22:g.43024242T>A (hg19) ; chr22:g.42628236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42628236T>A , CM000684.2:g.42628236T>A	GRCh38
NC_000022.10:g.43024242T>A , CM000684.1:g.43024242T>A	GRCh37
NC_000022.9:g.41354186T>A	NCBI36
NG_012194.1:g.26164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.379A>T	ENSP00000354468.5:p.Met127Leu
ENST00000402438.6:c.310A>T	ENSP00000385679.1:p.Met104Leu
ENST00000407332.6:c.397A>T	ENSP00000384457.2:p.Met133Leu
ENST00000407623.8:c.310A>T	ENSP00000384834.3:p.Met104Leu
ENST00000438270.2:c.310A>T	ENSP00000403439.2:p.Met104Leu
ENST00000684963.1:n.1656A>T
ENST00000686129.1:c.310A>T	ENSP00000508623.1:p.Met104Leu
ENST00000686523.1:c.*328A>T	ENSP00000508940.1:n.*328A>T
ENST00000687183.1:n.440A>T
ENST00000687198.1:c.310A>T	ENSP00000508492.1:p.Met104Leu
ENST00000688117.1:c.478A>T	ENSP00000509015.1:p.Met160Leu
ENST00000688244.1:c.333+2646A>T	ENSP00000510355.1:n.333+2646A>T
ENST00000689001.1:n.786A>T
ENST00000689195.1:c.379A>T	ENSP00000509895.1:p.Met127Leu
ENST00000689239.1:n.546A>T
ENST00000689795.1:n.541A>T
ENST00000690835.1:c.379A>T	ENSP00000509038.1:p.Met127Leu
ENST00000690993.1:n.456A>T
ENST00000691295.1:c.334-548A>T	ENSP00000508706.1:n.334-548A>T
ENST00000691918.1:c.358A>T	ENSP00000509525.1:p.Met120Leu
ENST00000692152.1:c.310A>T	ENSP00000509317.1:p.Met104Leu
ENST00000692344.1:n.403A>T
ENST00000693157.1:c.299A>T	ENSP00000510610.1:n.299A>T
ENST00000693363.1:c.379A>T	ENSP00000510411.1:p.Met127Leu
ENST00000693367.1:c.379A>T	ENSP00000508815.1:p.Met127Leu
ENST00000693639.1:c.372A>T	ENSP00000510223.1:p.Arg124Ser
ENST00000693646.1:c.285A>T	ENSP00000508449.1:p.Arg95Ser
ENST00000352397.10:c.379A>T MANE Select	ENSP00000338461.6:p.Met127Leu
ENST00000352397.9:c.379A>T	ENSP00000338461.6:p.Met127Leu
ENST00000361740.8:c.478A>T	ENSP00000354468.4:p.Met160Leu
ENST00000402438.5:c.310A>T	ENSP00000385679.1:p.Met104Leu
ENST00000407332.5:c.310A>T	ENSP00000384457.1:p.Met104Leu
ENST00000407623.7:c.310A>T	ENSP00000384834.3:p.Met104Leu
ENST00000438270.1:c.310A>T	ENSP00000403439.1:p.Met104Leu
ENST00000470741.1:n.2513A>T
NM_000398.6:c.379A>T	NP_000389.1:p.Met127Leu
NM_001129819.2:c.310A>T	NP_001123291.1:p.Met104Leu
NM_001171660.1:c.478A>T	NP_001165131.1:p.Met160Leu
NM_001171661.1:c.310A>T	NP_001165132.1:p.Met104Leu
NM_007326.4:c.310A>T	NP_015565.1:p.Met104Leu
NM_000398.7:c.379A>T MANE Select	NP_000389.1:p.Met127Leu
NM_001171660.2:c.478A>T	NP_001165131.1:p.Met160Leu