Canonical Allele Identifier: CA324698805

Gene: CYB5R3

Linked Data

• dbSNP Id: rs981097855
• gnomAD v3: 22-42627232-C-T
• gnomAD v4: 22-42627232-C-T
• MyVariant Identifiers: chr22:g.43023238C>T (hg19) ; chr22:g.42627232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627232C>T , CM000684.2:g.42627232C>T	GRCh38
NC_000022.10:g.43023238C>T , CM000684.1:g.43023238C>T	GRCh37
NC_000022.9:g.41353182C>T	NCBI36
NG_012194.1:g.27168G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.765+72G>A	ENSP00000354468.5:n.765+72G>A
ENST00000402438.6:c.564+72G>A	ENSP00000385679.1:n.564+72G>A
ENST00000407332.6:c.651+72G>A	ENSP00000384457.2:n.651+72G>A
ENST00000407623.8:c.564+72G>A	ENSP00000384834.3:n.564+72G>A
ENST00000617178.5:c.170+72G>A
ENST00000684963.1:n.2373+72G>A
ENST00000686523.1:c.*582+72G>A	ENSP00000508940.1:n.*582+72G>A
ENST00000687183.1:n.909+72G>A
ENST00000687198.1:c.564+72G>A	ENSP00000508492.1:n.564+72G>A
ENST00000688117.1:c.732+72G>A	ENSP00000509015.1:n.732+72G>A
ENST00000688244.1:c.334-3344G>A	ENSP00000510355.1:n.334-3344G>A
ENST00000689001.1:n.1255+72G>A
ENST00000689195.1:c.549+72G>A	ENSP00000509895.1:n.549+72G>A
ENST00000689239.1:n.800+72G>A
ENST00000689795.1:n.795+72G>A
ENST00000690835.1:c.633+72G>A	ENSP00000509038.1:n.633+72G>A
ENST00000690993.1:n.1388+72G>A
ENST00000691295.1:c.*116+72G>A	ENSP00000508706.1:n.*116+72G>A
ENST00000691918.1:c.612+72G>A	ENSP00000509525.1:n.612+72G>A
ENST00000692152.1:c.564+72G>A	ENSP00000509317.1:n.564+72G>A
ENST00000692344.1:n.1120+72G>A
ENST00000693363.1:c.675+72G>A	ENSP00000510411.1:n.675+72G>A
ENST00000693367.1:c.633+72G>A	ENSP00000508815.1:n.633+72G>A
ENST00000693639.1:c.626+72G>A	ENSP00000510223.1:n.626+72G>A
ENST00000693646.1:c.539+72G>A	ENSP00000508449.1:n.539+72G>A
ENST00000352397.10:c.633+72G>A MANE Select	ENSP00000338461.6:n.633+72G>A
ENST00000352397.9:c.633+72G>A	ENSP00000338461.6:n.633+72G>A
ENST00000361740.8:c.732+72G>A	ENSP00000354468.4:n.732+72G>A
ENST00000402438.5:c.564+72G>A	ENSP00000385679.1:n.564+72G>A
ENST00000407332.5:c.564+72G>A	ENSP00000384457.1:n.564+72G>A
ENST00000407623.7:c.564+72G>A	ENSP00000384834.3:n.564+72G>A
ENST00000470741.1:n.2767+72G>A
NM_000398.6:c.633+72G>A	NP_000389.1:n.633+72G>A
NM_001129819.2:c.564+72G>A	NP_001123291.1:n.564+72G>A
NM_001171660.1:c.732+72G>A	NP_001165131.1:n.732+72G>A
NM_001171661.1:c.564+72G>A	NP_001165132.1:n.564+72G>A
NM_007326.4:c.564+72G>A	NP_015565.1:n.564+72G>A
NM_000398.7:c.633+72G>A MANE Select	NP_000389.1:n.633+72G>A
NM_001171660.2:c.732+72G>A	NP_001165131.1:n.732+72G>A