Canonical Allele Identifier: CA411800375

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1462024149
• MyVariant Identifiers: chr22:g.43026914T>A (hg19) ; chr22:g.42630908T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630908T>A , CM000684.2:g.42630908T>A	GRCh38
NC_000022.10:g.43026914T>A , CM000684.1:g.43026914T>A	GRCh37
NC_000022.9:g.41356858T>A	NCBI36
NG_012194.1:g.23492A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.307A>T	ENSP00000354468.5:p.Lys103Ter
ENST00000402438.6:c.238A>T	ENSP00000385679.1:p.Lys80Ter
ENST00000407332.6:c.325A>T	ENSP00000384457.2:p.Lys109Ter
ENST00000407623.8:c.238A>T	ENSP00000384834.3:p.Lys80Ter
ENST00000438270.2:c.238A>T	ENSP00000403439.2:p.Lys80Ter
ENST00000466276.2:n.374A>T
ENST00000686129.1:c.238A>T	ENSP00000508623.1:p.Lys80Ter
ENST00000686523.1:c.*256A>T	ENSP00000508940.1:n.*256A>T
ENST00000687183.1:n.368A>T
ENST00000687198.1:c.238A>T	ENSP00000508492.1:p.Lys80Ter
ENST00000688117.1:c.406A>T	ENSP00000509015.1:p.Lys136Ter
ENST00000688244.1:c.307A>T	ENSP00000510355.1:p.Lys103Ter
ENST00000689001.1:n.714A>T
ENST00000689195.1:c.307A>T	ENSP00000509895.1:p.Lys103Ter
ENST00000689239.1:n.474A>T
ENST00000689795.1:n.469A>T
ENST00000690835.1:c.307A>T	ENSP00000509038.1:p.Lys103Ter
ENST00000690993.1:n.384A>T
ENST00000691295.1:c.307A>T	ENSP00000508706.1:p.Lys103Ter
ENST00000691918.1:c.286A>T	ENSP00000509525.1:p.Lys96Ter
ENST00000692152.1:c.238A>T	ENSP00000509317.1:p.Lys80Ter
ENST00000692344.1:n.331A>T
ENST00000693157.1:c.227A>T	ENSP00000510610.1:n.227A>T
ENST00000693363.1:c.307A>T	ENSP00000510411.1:p.Lys103Ter
ENST00000693367.1:c.307A>T	ENSP00000508815.1:p.Lys103Ter
ENST00000693639.1:c.300A>T	ENSP00000510223.1:p.Thr100=
ENST00000693646.1:c.213A>T	ENSP00000508449.1:p.Thr71=
ENST00000693716.1:n.535A>T
ENST00000352397.10:c.307A>T MANE Select	ENSP00000338461.6:p.Lys103Ter
ENST00000352397.9:c.307A>T	ENSP00000338461.6:p.Lys103Ter
ENST00000361740.8:c.406A>T	ENSP00000354468.4:p.Lys136Ter
ENST00000402438.5:c.238A>T	ENSP00000385679.1:p.Lys80Ter
ENST00000407332.5:c.238A>T	ENSP00000384457.1:p.Lys80Ter
ENST00000407623.7:c.238A>T	ENSP00000384834.3:p.Lys80Ter
ENST00000438270.1:c.238A>T	ENSP00000403439.1:p.Lys80Ter
ENST00000470741.1:n.2441A>T
NM_000398.6:c.307A>T	NP_000389.1:p.Lys103Ter
NM_001129819.2:c.238A>T	NP_001123291.1:p.Lys80Ter
NM_001171660.1:c.406A>T	NP_001165131.1:p.Lys136Ter
NM_001171661.1:c.238A>T	NP_001165132.1:p.Lys80Ter
NM_007326.4:c.238A>T	NP_015565.1:p.Lys80Ter
NM_000398.7:c.307A>T MANE Select	NP_000389.1:p.Lys103Ter
NM_001171660.2:c.406A>T	NP_001165131.1:p.Lys136Ter