Canonical Allele Identifier: CA12452195
Gene: C7orf50 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1997243

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1044141A>G , CM000669.2:g.1044141A>G GRCh38
NC_000007.13:g.1083777A>G , CM000669.1:g.1083777A>G GRCh37
NC_000007.12:g.1050303A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001134395.1:c.130-33998T>C VV NP_001127867.1:p.=
NM_001134396.1:c.130-33998T>C VV NP_001127868.1:p.=
NM_032350.5:c.130-33998T>C VV NP_115726.1:p.=
XM_005249888.3:c.130-33998T>C XP_005249945.1:p.=
XM_011515581.1:c.130-33998T>C XP_011513883.1:p.=
XM_011515582.1:c.130-33998T>C XP_011513884.1:p.=
XM_011515583.1:c.130-33998T>C XP_011513885.1:p.=
XM_011515584.1:c.130-33998T>C XP_011513886.1:p.=
NM_001318252.1:c.130-33998T>C VV NP_001305181.1:p.=
NM_001350968.1:c.130-33998T>C VV NP_001337897.1:p.=
XM_011515581.3:c.130-33998T>C XP_011513883.1:p.=
XM_011515582.3:c.130-33998T>C XP_011513884.1:p.=
XM_011515583.2:c.130-33998T>C XP_011513885.1:p.=
XM_011515584.2:c.130-33998T>C XP_011513886.1:p.=
XM_017012720.2:c.130-33998T>C XP_016868209.1:p.=
XM_017012721.2:c.-144-22550T>C XP_016868210.1:p.=
XM_024446977.1:c.130-33998T>C XP_024302745.1:p.=
XM_024446978.1:c.-144-22550T>C XP_024302746.1:p.=
NM_001318252.2:c.130-33998T>C VV MANE Preferred NP_001305181.1:p.=
ENST00000357429.10:c.130-33998T>C ENSP00000350011.5:p.=
ENST00000397098.7:c.130-33998T>C ENSP00000380286.3:p.=
ENST00000397100.6:c.130-33998T>C ENSP00000380288.2:p.=
ENST00000444428.5:n.33+11133T>C ENSP00000396542.1:p.=
ENST00000488073.1:n.267-33998T>C
ENST00000491163.1:c.130-33998T>C ENSP00000420130.1:p.=