Canonical Allele Identifier: CA2687375232
Gene: NSMAF HGNC NCBI

Linked Data

gnomAD v4: 8-58595937-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58595937G>T , CM000670.2:g.58595937G>T GRCh38
NC_000008.10:g.59508496G>T , CM000670.1:g.59508496G>T GRCh37
NC_000008.9:g.59671050G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000038176.8:c.1793-278C>A MANE Select ENSP00000038176.3:n.1793-278C>A
ENST00000649465.1:c.*1932-278C>A ENSP00000498107.1:n.*1932-278C>A
ENST00000038176.7:c.1793-278C>A ENSP00000038176.3:n.1793-278C>A
ENST00000427130.6:c.1886-278C>A ENSP00000411012.2:n.1886-278C>A
ENST00000523106.5:n.457-278C>A
NM_001144772.1:c.1886-278C>A NP_001138244.1:n.1886-278C>A
NM_003580.3:c.1793-278C>A NP_003571.2:n.1793-278C>A
NM_003580.4:c.1793-278C>A MANE Select NP_003571.2:n.1793-278C>A
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