Canonical Allele Identifier: CA411800608

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1288960122
• gnomAD v2: 22-43026967-A-T
• gnomAD v4: 22-42630961-A-T
• MyVariant Identifiers: chr22:g.43026967A>T (hg19) ; chr22:g.42630961A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42630961A>T , CM000684.2:g.42630961A>T	GRCh38
NC_000022.10:g.43026967A>T , CM000684.1:g.43026967A>T	GRCh37
NC_000022.9:g.41356911A>T	NCBI36
NG_012194.1:g.23439T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.254T>A	ENSP00000354468.5:p.Ile85Asn
ENST00000402438.6:c.185T>A	ENSP00000385679.1:p.Ile62Asn
ENST00000407332.6:c.272T>A	ENSP00000384457.2:p.Ile91Asn
ENST00000407623.8:c.185T>A	ENSP00000384834.3:p.Ile62Asn
ENST00000438270.2:c.185T>A	ENSP00000403439.2:p.Ile62Asn
ENST00000466276.2:n.321T>A
ENST00000686129.1:c.185T>A	ENSP00000508623.1:p.Ile62Asn
ENST00000686523.1:c.*203T>A	ENSP00000508940.1:n.*203T>A
ENST00000687183.1:n.315T>A
ENST00000687198.1:c.185T>A	ENSP00000508492.1:p.Ile62Asn
ENST00000688117.1:c.353T>A	ENSP00000509015.1:p.Ile118Asn
ENST00000688244.1:c.254T>A	ENSP00000510355.1:p.Ile85Asn
ENST00000689001.1:n.661T>A
ENST00000689195.1:c.254T>A	ENSP00000509895.1:p.Ile85Asn
ENST00000689239.1:n.421T>A
ENST00000689795.1:n.416T>A
ENST00000690835.1:c.254T>A	ENSP00000509038.1:p.Ile85Asn
ENST00000690993.1:n.331T>A
ENST00000691295.1:c.254T>A	ENSP00000508706.1:p.Ile85Asn
ENST00000691918.1:c.233T>A	ENSP00000509525.1:p.Ile78Asn
ENST00000692152.1:c.185T>A	ENSP00000509317.1:p.Ile62Asn
ENST00000692344.1:n.278T>A
ENST00000693157.1:c.174T>A	ENSP00000510610.1:p.Asn58Lys
ENST00000693363.1:c.254T>A	ENSP00000510411.1:p.Ile85Asn
ENST00000693367.1:c.254T>A	ENSP00000508815.1:p.Ile85Asn
ENST00000693639.1:c.247T>A	ENSP00000510223.1:p.Leu83Met
ENST00000693646.1:c.160T>A	ENSP00000508449.1:p.Leu54Met
ENST00000693716.1:n.482T>A
ENST00000352397.10:c.254T>A MANE Select	ENSP00000338461.6:p.Ile85Asn
ENST00000352397.9:c.254T>A	ENSP00000338461.6:p.Ile85Asn
ENST00000361740.8:c.353T>A	ENSP00000354468.4:p.Ile118Asn
ENST00000402438.5:c.185T>A	ENSP00000385679.1:p.Ile62Asn
ENST00000407332.5:c.185T>A	ENSP00000384457.1:p.Ile62Asn
ENST00000407623.7:c.185T>A	ENSP00000384834.3:p.Ile62Asn
ENST00000438270.1:c.185T>A	ENSP00000403439.1:p.Ile62Asn
ENST00000470741.1:n.2388T>A
NM_000398.6:c.254T>A	NP_000389.1:p.Ile85Asn
NM_001129819.2:c.185T>A	NP_001123291.1:p.Ile62Asn
NM_001171660.1:c.353T>A	NP_001165131.1:p.Ile118Asn
NM_001171661.1:c.185T>A	NP_001165132.1:p.Ile62Asn
NM_007326.4:c.185T>A	NP_015565.1:p.Ile62Asn
NM_000398.7:c.254T>A MANE Select	NP_000389.1:p.Ile85Asn
NM_001171660.2:c.353T>A	NP_001165131.1:p.Ile118Asn