Canonical Allele Identifier: CA341538882
Gene: CYB561D1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109495812C>G , CM000663.2:g.109495812C>G GRCh38
NC_000001.10:g.110038434C>G , CM000663.1:g.110038434C>G GRCh37
NC_000001.9:g.109839957C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_182580.3:c.243C>G MANE Select NP_872386.1:p.Phe81Leu
ENST00000420578.7:c.243C>G MANE Select ENSP00000413530.2:p.Phe81Leu
NM_001134400.1:c.309C>G NP_001127872.1:p.Phe103Leu
NM_001134400.2:c.309C>G NP_001127872.1:p.Phe103Leu
NM_001134402.1:c.72C>G NP_001127874.1:p.Phe24Leu
NM_001134402.2:c.72C>G NP_001127874.1:p.Phe24Leu
NM_001134403.1:c.347C>G NP_001127875.1:p.Ser116Cys
NM_001134403.2:c.347C>G NP_001127875.1:p.Ser116Cys
NM_001134404.1:c.*37C>G NP_001127876.1:n.*37C>G
NM_001134404.2:c.*37C>G NP_001127876.1:n.*37C>G
NM_182580.2:c.243C>G NP_872386.1:p.Phe81Leu
ENST00000310611.8:c.347C>G ENSP00000309324.4:p.Ser116Cys
ENST00000369868.7:c.309C>G ENSP00000358884.3:p.Phe103Leu
ENST00000393709.3:c.72C>G ENSP00000377312.3:p.Phe24Leu
ENST00000420578.6:c.243C>G ENSP00000413530.2:p.Phe81Leu
ENST00000430195.2:c.*37C>G ENSP00000416898.2:n.*37C>G
ENST00000496961.5:c.*125C>G ENSP00000435819.1:n.*125C>G
ENST00000527072.5:c.*37C>G ENSP00000433095.1:n.*37C>G
ENST00000528785.1:c.243C>G ENSP00000434344.1:p.Phe81Leu
ENST00000533024.5:c.110C>G ENSP00000435802.1:p.Ser37Cys
XM_005270775.2:c.129C>G XP_005270832.1:p.Phe43Leu
XM_005270776.2:c.69C>G XP_005270833.1:p.Phe23Leu
XM_005270776.3:c.69C>G XP_005270833.1:p.Phe23Leu
XM_005270777.2:c.45C>G XP_005270834.1:p.Phe15Leu
XM_011541286.1:c.129C>G XP_011539588.1:p.Phe43Leu
XM_011541286.2:c.129C>G XP_011539588.1:p.Phe43Leu
XM_011541287.1:c.129C>G XP_011539589.1:p.Phe43Leu
XM_011541287.3:c.426C>G XP_011539589.2:p.Phe142Leu
XM_017001079.1:c.69C>G XP_016856568.1:p.Phe23Leu