Canonical Allele Identifier: CA2577738921

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627743-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627743T>C , CM000684.2:g.42627743T>C	GRCh38
NC_000022.10:g.43023749T>C , CM000684.1:g.43023749T>C	GRCh37
NC_000022.9:g.41353693T>C	NCBI36
NG_012194.1:g.26657A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.595+29A>G	ENSP00000354468.5:n.595+29A>G
ENST00000402438.6:c.395-55A>G	ENSP00000385679.1:n.395-55A>G
ENST00000407332.6:c.482-55A>G	ENSP00000384457.2:n.482-55A>G
ENST00000407623.8:c.395-55A>G	ENSP00000384834.3:n.395-55A>G
ENST00000438270.2:c.395-55A>G	ENSP00000403439.2:n.395-55A>G
ENST00000684963.1:n.2149A>G
ENST00000686523.1:c.*413-55A>G	ENSP00000508940.1:n.*413-55A>G
ENST00000687183.1:n.525-55A>G
ENST00000687198.1:c.395-55A>G	ENSP00000508492.1:n.395-55A>G
ENST00000688117.1:c.563-55A>G	ENSP00000509015.1:n.563-55A>G
ENST00000688244.1:c.333+3139A>G	ENSP00000510355.1:n.333+3139A>G
ENST00000689001.1:n.871-55A>G
ENST00000689195.1:c.464-354A>G	ENSP00000509895.1:n.464-354A>G
ENST00000689239.1:n.631-55A>G
ENST00000689795.1:n.626-55A>G
ENST00000690835.1:c.464-55A>G	ENSP00000509038.1:n.464-55A>G
ENST00000690993.1:n.949A>G
ENST00000691295.1:c.334-55A>G	ENSP00000508706.1:n.334-55A>G
ENST00000691918.1:c.443-55A>G	ENSP00000509525.1:n.443-55A>G
ENST00000692152.1:c.395-55A>G	ENSP00000509317.1:n.395-55A>G
ENST00000692344.1:n.896A>G
ENST00000693363.1:c.464-55A>G	ENSP00000510411.1:n.464-55A>G
ENST00000693367.1:c.464-55A>G	ENSP00000508815.1:n.464-55A>G
ENST00000693639.1:c.457-55A>G	ENSP00000510223.1:n.457-55A>G
ENST00000693646.1:c.370-55A>G	ENSP00000508449.1:n.370-55A>G
ENST00000352397.10:c.464-55A>G MANE Select	ENSP00000338461.6:n.464-55A>G
ENST00000352397.9:c.464-55A>G	ENSP00000338461.6:n.464-55A>G
ENST00000361740.8:c.563-55A>G	ENSP00000354468.4:n.563-55A>G
ENST00000402438.5:c.395-55A>G	ENSP00000385679.1:n.395-55A>G
ENST00000407332.5:c.395-55A>G	ENSP00000384457.1:n.395-55A>G
ENST00000407623.7:c.395-55A>G	ENSP00000384834.3:n.395-55A>G
ENST00000438270.1:c.395-55A>G	ENSP00000403439.1:n.395-55A>G
ENST00000470741.1:n.2598-55A>G
NM_000398.6:c.464-55A>G	NP_000389.1:n.464-55A>G
NM_001129819.2:c.395-55A>G	NP_001123291.1:n.395-55A>G
NM_001171660.1:c.563-55A>G	NP_001165131.1:n.563-55A>G
NM_001171661.1:c.395-55A>G	NP_001165132.1:n.395-55A>G
NM_007326.4:c.395-55A>G	NP_015565.1:n.395-55A>G
NM_000398.7:c.464-55A>G MANE Select	NP_000389.1:n.464-55A>G
NM_001171660.2:c.563-55A>G	NP_001165131.1:n.563-55A>G