Canonical Allele Identifier: CA2224333858
Gene: NUP93 HGNC NCBI

Linked Data

dbSNP Id: rs1963921634

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.56836775T>G , CM000678.2:g.56836775T>G GRCh38
NC_000016.9:g.56870687T>G , CM000678.1:g.56870687T>G GRCh37
NC_000016.8:g.55428188T>G NCBI36
NG_052904.1:g.111671T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308159.10:c.1899+58T>G MANE Select ENSP00000310668.5:n.1899+58T>G
ENST00000308159.9:c.1899+58T>G ENSP00000310668.5:n.1899+58T>G
ENST00000542526.5:c.1530+58T>G ENSP00000440235.1:n.1530+58T>G
ENST00000563405.1:c.93+58T>G ENSP00000458078.1:n.93+58T>G
ENST00000564887.5:c.1530+58T>G ENSP00000458039.1:n.1530+58T>G
ENST00000569842.5:c.1899+58T>G ENSP00000458101.1:n.1899+58T>G
NM_001242795.1:c.1530+58T>G NP_001229724.1:n.1530+58T>G
NM_001242796.1:c.1530+58T>G NP_001229725.1:n.1530+58T>G
NM_014669.4:c.1899+58T>G NP_055484.3:n.1899+58T>G
XM_005256263.2:c.1899+58T>G XP_005256320.1:n.1899+58T>G
NM_001242796.2:c.1530+58T>G NP_001229725.1:n.1530+58T>G
XM_005256263.3:c.1899+58T>G XP_005256320.1:n.1899+58T>G
NM_014669.5:c.1899+58T>G MANE Select NP_055484.3:n.1899+58T>G
NM_001242795.2:c.1530+58T>G NP_001229724.1:n.1530+58T>G