Canonical Allele Identifier: CA6678214
Community Standard Title: NM_020401.4(NUP107):c.*10T>C
Gene: NUP107 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68742472T>C , CM000674.2:g.68742472T>C GRCh38
NC_000012.11:g.69136252T>C , CM000674.1:g.69136252T>C GRCh37
NC_000012.10:g.67422519T>C NCBI36
NG_046600.2:g.60522T>C

Transcript Alleles

HGVS Amino-acid Change
NM_020401.4:c.*10T>C MANE Select NP_065134.1:n.*10T>C
ENST00000229179.9:c.*10T>C MANE Select ENSP00000229179.4:n.*10T>C
NM_001330192.1:c.*10T>C NP_001317121.1:n.*10T>C
NM_001330192.2:c.*10T>C NP_001317121.1:n.*10T>C
NM_020401.2:c.*10T>C NP_065134.1:n.*10T>C
NM_020401.3:c.*10T>C NP_065134.1:n.*10T>C
ENST00000229179.8:c.*10T>C ENSP00000229179.4:n.*10T>C
ENST00000378905.6:c.*10T>C ENSP00000368185.2:n.*10T>C
ENST00000535718.5:c.*2067T>C ENSP00000445567.1:n.*2067T>C
ENST00000539906.5:c.*10T>C ENSP00000441448.1:n.*10T>C
XM_005269037.2:c.*10T>C XP_005269094.1:n.*10T>C
XM_005269037.4:c.*10T>C XP_005269094.1:n.*10T>C
XM_011538576.1:c.*10T>C XP_011536878.1:n.*10T>C