Canonical Allele Identifier: CA411796781

Gene: CYB5R3

Linked Data

• dbSNP Id: rs1363670012
• gnomAD v2: 22-43019893-G-A
• gnomAD v3: 22-42623887-G-A
• gnomAD v4: 22-42623887-G-A
• MyVariant Identifiers: chr22:g.43019893G>A (hg19) ; chr22:g.42623887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623887G>A , CM000684.2:g.42623887G>A	GRCh38
NC_000022.10:g.43019893G>A , CM000684.1:g.43019893G>A	GRCh37
NC_000022.9:g.41349837G>A	NCBI36
NG_012194.1:g.30513C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.767C>T	ENSP00000354468.5:p.Thr256Ile
ENST00000402438.6:c.566C>T	ENSP00000385679.1:p.Thr189Ile
ENST00000407332.6:c.653C>T	ENSP00000384457.2:p.Thr218Ile
ENST00000407623.8:c.566C>T	ENSP00000384834.3:p.Thr189Ile
ENST00000617178.5:c.172C>T
ENST00000684963.1:n.2375C>T
ENST00000685184.1:n.227C>T
ENST00000686523.1:c.*584C>T	ENSP00000508940.1:n.*584C>T
ENST00000687183.1:n.911C>T
ENST00000687198.1:c.566C>T	ENSP00000508492.1:p.Thr189Ile
ENST00000688117.1:c.734C>T	ENSP00000509015.1:p.Thr245Ile
ENST00000688244.1:c.335C>T	ENSP00000510355.1:p.Thr112Ile
ENST00000689001.1:n.1257C>T
ENST00000689195.1:c.551C>T	ENSP00000509895.1:p.Thr184Ile
ENST00000689239.1:n.802C>T
ENST00000689795.1:n.896C>T
ENST00000690835.1:c.*14C>T	ENSP00000509038.1:n.*14C>T
ENST00000690993.1:n.1390C>T
ENST00000691295.1:c.*118C>T	ENSP00000508706.1:n.*118C>T
ENST00000691918.1:c.925C>T	ENSP00000509525.1:n.925C>T
ENST00000692152.1:c.566C>T	ENSP00000509317.1:p.Thr189Ile
ENST00000692344.1:n.1122C>T
ENST00000693363.1:c.677C>T	ENSP00000510411.1:p.Thr226Ile
ENST00000693367.1:c.635C>T	ENSP00000508815.1:p.Thr212Ile
ENST00000693639.1:c.628C>T	ENSP00000510223.1:n.628C>T
ENST00000693646.1:c.541C>T	ENSP00000508449.1:n.541C>T
ENST00000352397.10:c.635C>T MANE Select	ENSP00000338461.6:p.Thr212Ile
ENST00000352397.9:c.635C>T	ENSP00000338461.6:p.Thr212Ile
ENST00000361740.8:c.734C>T	ENSP00000354468.4:p.Thr245Ile
ENST00000402438.5:c.566C>T	ENSP00000385679.1:p.Thr189Ile
ENST00000407332.5:c.566C>T	ENSP00000384457.1:p.Thr189Ile
ENST00000407623.7:c.566C>T	ENSP00000384834.3:p.Thr189Ile
ENST00000470741.1:n.2769C>T
NM_000398.6:c.635C>T	NP_000389.1:p.Thr212Ile
NM_001129819.2:c.566C>T	NP_001123291.1:p.Thr189Ile
NM_001171660.1:c.734C>T	NP_001165131.1:p.Thr245Ile
NM_001171661.1:c.566C>T	NP_001165132.1:p.Thr189Ile
NM_007326.4:c.566C>T	NP_015565.1:p.Thr189Ile
NM_000398.7:c.635C>T MANE Select	NP_000389.1:p.Thr212Ile
NM_001171660.2:c.734C>T	NP_001165131.1:p.Thr245Ile