Canonical Allele Identifier: CA11494419
Gene: NUP210 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.13316486A>G , CM000665.2:g.13316486A>G GRCh38
NC_000003.11:g.13357986A>G , CM000665.1:g.13357986A>G GRCh37
NC_000003.10:g.13332986A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000695489.1:n.2587T>C
ENST00000695490.1:c.4261T>C ENSP00000511960.1:n.4261T>C
ENST00000254508.7:c.*1195T>C MANE Select ENSP00000254508.5:n.*1195T>C
ENST00000254508.6:c.*1195T>C ENSP00000254508.5:n.*1195T>C
NM_024923.3:c.*1195T>C NP_079199.2:n.*1195T>C
XM_024453411.1:c.*1092T>C XP_024309179.1:n.*1092T>C
XM_024453412.1:c.*1092T>C XP_024309180.1:n.*1092T>C
XM_024453413.1:c.*1092T>C XP_024309181.1:n.*1092T>C
XM_024453414.1:c.*1092T>C XP_024309182.1:n.*1092T>C
XM_024453415.1:c.*1092T>C XP_024309183.1:n.*1092T>C
XM_024453416.1:c.*1092T>C XP_024309184.1:n.*1092T>C
NM_024923.4:c.*1195T>C MANE Select NP_079199.2:n.*1195T>C