Canonical Allele Identifier: CA411796387

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1237776502
• gnomAD v2: 22-43019825-G-A
• gnomAD v3: 22-42623819-G-A
• gnomAD v4: 22-42623819-G-A
• MyVariant Identifiers: chr22:g.43019825G>A (hg19) ; chr22:g.42623819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623819G>A , CM000684.2:g.42623819G>A	GRCh38
NC_000022.10:g.43019825G>A , CM000684.1:g.43019825G>A	GRCh37
NC_000022.9:g.41349769G>A	NCBI36
NG_012194.1:g.30581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.835C>T	ENSP00000354468.5:p.Leu279Phe
ENST00000402438.6:c.634C>T	ENSP00000385679.1:p.Leu212Phe
ENST00000407332.6:c.721C>T	ENSP00000384457.2:p.Leu241Phe
ENST00000407623.8:c.634C>T	ENSP00000384834.3:p.Leu212Phe
ENST00000617178.5:c.240C>T
ENST00000684963.1:n.2443C>T
ENST00000685184.1:n.295C>T
ENST00000686523.1:c.*652C>T	ENSP00000508940.1:n.*652C>T
ENST00000687183.1:n.979C>T
ENST00000687198.1:c.634C>T	ENSP00000508492.1:p.Leu212Phe
ENST00000688117.1:c.802C>T	ENSP00000509015.1:p.Leu268Phe
ENST00000688244.1:c.403C>T	ENSP00000510355.1:p.Leu135Phe
ENST00000689001.1:n.1325C>T
ENST00000689195.1:c.619C>T	ENSP00000509895.1:p.Leu207Phe
ENST00000689239.1:n.870C>T
ENST00000689795.1:n.964C>T
ENST00000690835.1:c.*82C>T	ENSP00000509038.1:n.*82C>T
ENST00000690993.1:n.1458C>T
ENST00000691295.1:c.*186C>T	ENSP00000508706.1:n.*186C>T
ENST00000691918.1:c.993C>T	ENSP00000509525.1:n.993C>T
ENST00000692152.1:c.634C>T	ENSP00000509317.1:p.Leu212Phe
ENST00000692344.1:n.1190C>T
ENST00000693363.1:c.745C>T	ENSP00000510411.1:p.Leu249Phe
ENST00000693367.1:c.703C>T	ENSP00000508815.1:p.Leu235Phe
ENST00000693639.1:c.696C>T	ENSP00000510223.1:n.696C>T
ENST00000693646.1:c.609C>T	ENSP00000508449.1:n.609C>T
ENST00000352397.10:c.703C>T MANE Select	ENSP00000338461.6:p.Leu235Phe
ENST00000352397.9:c.703C>T	ENSP00000338461.6:p.Leu235Phe
ENST00000361740.8:c.802C>T	ENSP00000354468.4:p.Leu268Phe
ENST00000402438.5:c.634C>T	ENSP00000385679.1:p.Leu212Phe
ENST00000407332.5:c.634C>T	ENSP00000384457.1:p.Leu212Phe
ENST00000407623.7:c.634C>T	ENSP00000384834.3:p.Leu212Phe
ENST00000470741.1:n.2837C>T
NM_000398.6:c.703C>T	NP_000389.1:p.Leu235Phe
NM_001129819.2:c.634C>T	NP_001123291.1:p.Leu212Phe
NM_001171660.1:c.802C>T	NP_001165131.1:p.Leu268Phe
NM_001171661.1:c.634C>T	NP_001165132.1:p.Leu212Phe
NM_007326.4:c.634C>T	NP_015565.1:p.Leu212Phe
NM_000398.7:c.703C>T MANE Select	NP_000389.1:p.Leu235Phe
NM_001171660.2:c.802C>T	NP_001165131.1:p.Leu268Phe