Canonical Allele Identifier: CA2657069760

Gene: CYB5R3

Linked Data

• gnomAD v4: 22-42627233-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42627233A>G , CM000684.2:g.42627233A>G	GRCh38
NC_000022.10:g.43023239A>G , CM000684.1:g.43023239A>G	GRCh37
NC_000022.9:g.41353183A>G	NCBI36
NG_012194.1:g.27167T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361740.9:c.765+71T>C	ENSP00000354468.5:n.765+71T>C
ENST00000402438.6:c.564+71T>C	ENSP00000385679.1:n.564+71T>C
ENST00000407332.6:c.651+71T>C	ENSP00000384457.2:n.651+71T>C
ENST00000407623.8:c.564+71T>C	ENSP00000384834.3:n.564+71T>C
ENST00000617178.5:c.170+71T>C
ENST00000684963.1:n.2373+71T>C
ENST00000686523.1:c.*582+71T>C	ENSP00000508940.1:n.*582+71T>C
ENST00000687183.1:n.909+71T>C
ENST00000687198.1:c.564+71T>C	ENSP00000508492.1:n.564+71T>C
ENST00000688117.1:c.732+71T>C	ENSP00000509015.1:n.732+71T>C
ENST00000688244.1:c.334-3345T>C	ENSP00000510355.1:n.334-3345T>C
ENST00000689001.1:n.1255+71T>C
ENST00000689195.1:c.549+71T>C	ENSP00000509895.1:n.549+71T>C
ENST00000689239.1:n.800+71T>C
ENST00000689795.1:n.795+71T>C
ENST00000690835.1:c.633+71T>C	ENSP00000509038.1:n.633+71T>C
ENST00000690993.1:n.1388+71T>C
ENST00000691295.1:c.*116+71T>C	ENSP00000508706.1:n.*116+71T>C
ENST00000691918.1:c.612+71T>C	ENSP00000509525.1:n.612+71T>C
ENST00000692152.1:c.564+71T>C	ENSP00000509317.1:n.564+71T>C
ENST00000692344.1:n.1120+71T>C
ENST00000693363.1:c.675+71T>C	ENSP00000510411.1:n.675+71T>C
ENST00000693367.1:c.633+71T>C	ENSP00000508815.1:n.633+71T>C
ENST00000693639.1:c.626+71T>C	ENSP00000510223.1:n.626+71T>C
ENST00000693646.1:c.539+71T>C	ENSP00000508449.1:n.539+71T>C
ENST00000352397.10:c.633+71T>C MANE Select	ENSP00000338461.6:n.633+71T>C
ENST00000352397.9:c.633+71T>C	ENSP00000338461.6:n.633+71T>C
ENST00000361740.8:c.732+71T>C	ENSP00000354468.4:n.732+71T>C
ENST00000402438.5:c.564+71T>C	ENSP00000385679.1:n.564+71T>C
ENST00000407332.5:c.564+71T>C	ENSP00000384457.1:n.564+71T>C
ENST00000407623.7:c.564+71T>C	ENSP00000384834.3:n.564+71T>C
ENST00000470741.1:n.2767+71T>C
NM_000398.6:c.633+71T>C	NP_000389.1:n.633+71T>C
NM_001129819.2:c.564+71T>C	NP_001123291.1:n.564+71T>C
NM_001171660.1:c.732+71T>C	NP_001165131.1:n.732+71T>C
NM_001171661.1:c.564+71T>C	NP_001165132.1:n.564+71T>C
NM_007326.4:c.564+71T>C	NP_015565.1:n.564+71T>C
NM_000398.7:c.633+71T>C MANE Select	NP_000389.1:n.633+71T>C
NM_001171660.2:c.732+71T>C	NP_001165131.1:n.732+71T>C