Canonical Allele Identifier: CA324695524

Gene: CYB5R3

Linked Data

• dbSNP Id: rs538503500
• gnomAD v2: 22-43019616-G-C
• gnomAD v3: 22-42623610-G-C
• gnomAD v4: 22-42623610-G-C
• MyVariant Identifiers: chr22:g.43019616G>C (hg19) ; chr22:g.42623610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.42623610G>C , CM000684.2:g.42623610G>C	GRCh38
NC_000022.10:g.43019616G>C , CM000684.1:g.43019616G>C	GRCh37
NC_000022.9:g.41349560G>C	NCBI36
NG_012194.1:g.30790C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361740.9:c.865+179C>G	ENSP00000354468.5:n.865+179C>G
ENST00000402438.6:c.664+179C>G	ENSP00000385679.1:n.664+179C>G
ENST00000407332.6:c.751+179C>G	ENSP00000384457.2:n.751+179C>G
ENST00000407623.8:c.664+179C>G	ENSP00000384834.3:n.664+179C>G
ENST00000617178.5:c.270+179C>G
ENST00000684963.1:n.2473+179C>G
ENST00000685184.1:n.325+179C>G
ENST00000686523.1:c.*682+179C>G	ENSP00000508940.1:n.*682+179C>G
ENST00000687183.1:n.1009+179C>G
ENST00000687198.1:c.664+179C>G	ENSP00000508492.1:n.664+179C>G
ENST00000688117.1:c.832+179C>G	ENSP00000509015.1:n.832+179C>G
ENST00000688244.1:c.433+179C>G	ENSP00000510355.1:n.433+179C>G
ENST00000689001.1:n.1355+179C>G
ENST00000689195.1:c.649+179C>G	ENSP00000509895.1:n.649+179C>G
ENST00000689239.1:n.900+179C>G
ENST00000689795.1:n.994+179C>G
ENST00000690835.1:c.*112+179C>G	ENSP00000509038.1:n.*112+179C>G
ENST00000690993.1:n.1488+179C>G
ENST00000691295.1:c.*216+179C>G	ENSP00000508706.1:n.*216+179C>G
ENST00000692152.1:c.664+179C>G	ENSP00000509317.1:n.664+179C>G
ENST00000692344.1:n.1220+179C>G
ENST00000693363.1:c.775+179C>G	ENSP00000510411.1:n.775+179C>G
ENST00000693367.1:c.733+179C>G	ENSP00000508815.1:n.733+179C>G
ENST00000352397.10:c.733+179C>G MANE Select	ENSP00000338461.6:n.733+179C>G
ENST00000352397.9:c.733+179C>G	ENSP00000338461.6:n.733+179C>G
ENST00000361740.8:c.832+179C>G	ENSP00000354468.4:n.832+179C>G
ENST00000402438.5:c.664+179C>G	ENSP00000385679.1:n.664+179C>G
ENST00000407332.5:c.664+179C>G	ENSP00000384457.1:n.664+179C>G
ENST00000407623.7:c.664+179C>G	ENSP00000384834.3:n.664+179C>G
ENST00000470741.1:n.2867+179C>G
NM_000398.6:c.733+179C>G	NP_000389.1:n.733+179C>G
NM_001129819.2:c.664+179C>G	NP_001123291.1:n.664+179C>G
NM_001171660.1:c.832+179C>G	NP_001165131.1:n.832+179C>G
NM_001171661.1:c.664+179C>G	NP_001165132.1:n.664+179C>G
NM_007326.4:c.664+179C>G	NP_015565.1:n.664+179C>G
NM_000398.7:c.733+179C>G MANE Select	NP_000389.1:n.733+179C>G
NM_001171660.2:c.832+179C>G	NP_001165131.1:n.832+179C>G