Canonical Allele Identifier: CA411800389

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42630911-C-A
• MyVariant Identifiers: chr22:g.43026917C>A (hg19) ; chr22:g.42630911C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630911C>A , CM000684.2:g.42630911C>A	GRCh38
NC_000022.10:g.43026917C>A , CM000684.1:g.43026917C>A	GRCh37
NC_000022.9:g.41356861C>A	NCBI36
NG_012194.1:g.23489G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.304G>T	ENSP00000354468.5:p.Asp102Tyr
ENST00000402438.6:c.235G>T	ENSP00000385679.1:p.Asp79Tyr
ENST00000407332.6:c.322G>T	ENSP00000384457.2:p.Asp108Tyr
ENST00000407623.8:c.235G>T	ENSP00000384834.3:p.Asp79Tyr
ENST00000438270.2:c.235G>T	ENSP00000403439.2:p.Asp79Tyr
ENST00000466276.2:n.371G>T
ENST00000686129.1:c.235G>T	ENSP00000508623.1:p.Asp79Tyr
ENST00000686523.1:c.*253G>T	ENSP00000508940.1:n.*253G>T
ENST00000687183.1:n.365G>T
ENST00000687198.1:c.235G>T	ENSP00000508492.1:p.Asp79Tyr
ENST00000688117.1:c.403G>T	ENSP00000509015.1:p.Asp135Tyr
ENST00000688244.1:c.304G>T	ENSP00000510355.1:p.Asp102Tyr
ENST00000689001.1:n.711G>T
ENST00000689195.1:c.304G>T	ENSP00000509895.1:p.Asp102Tyr
ENST00000689239.1:n.471G>T
ENST00000689795.1:n.466G>T
ENST00000690835.1:c.304G>T	ENSP00000509038.1:p.Asp102Tyr
ENST00000690993.1:n.381G>T
ENST00000691295.1:c.304G>T	ENSP00000508706.1:p.Asp102Tyr
ENST00000691918.1:c.283G>T	ENSP00000509525.1:p.Asp95Tyr
ENST00000692152.1:c.235G>T	ENSP00000509317.1:p.Asp79Tyr
ENST00000692344.1:n.328G>T
ENST00000693157.1:c.224G>T	ENSP00000510610.1:n.224G>T
ENST00000693363.1:c.304G>T	ENSP00000510411.1:p.Asp102Tyr
ENST00000693367.1:c.304G>T	ENSP00000508815.1:p.Asp102Tyr
ENST00000693639.1:c.297G>T	ENSP00000510223.1:p.Met99Ile
ENST00000693646.1:c.210G>T	ENSP00000508449.1:p.Met70Ile
ENST00000693716.1:n.532G>T
ENST00000352397.10:c.304G>T MANE Select	ENSP00000338461.6:p.Asp102Tyr
ENST00000352397.9:c.304G>T	ENSP00000338461.6:p.Asp102Tyr
ENST00000361740.8:c.403G>T	ENSP00000354468.4:p.Asp135Tyr
ENST00000402438.5:c.235G>T	ENSP00000385679.1:p.Asp79Tyr
ENST00000407332.5:c.235G>T	ENSP00000384457.1:p.Asp79Tyr
ENST00000407623.7:c.235G>T	ENSP00000384834.3:p.Asp79Tyr
ENST00000438270.1:c.235G>T	ENSP00000403439.1:p.Asp79Tyr
ENST00000470741.1:n.2438G>T
NM_000398.6:c.304G>T	NP_000389.1:p.Asp102Tyr
NM_001129819.2:c.235G>T	NP_001123291.1:p.Asp79Tyr
NM_001171660.1:c.403G>T	NP_001165131.1:p.Asp135Tyr
NM_001171661.1:c.235G>T	NP_001165132.1:p.Asp79Tyr
NM_007326.4:c.235G>T	NP_015565.1:p.Asp79Tyr
NM_000398.7:c.304G>T MANE Select	NP_000389.1:p.Asp102Tyr
NM_001171660.2:c.403G>T	NP_001165131.1:p.Asp135Tyr