Canonical Allele Identifier: CA1787026129
Gene: NSMAF HGNC NCBI

Linked Data

dbSNP Id: rs1806128341
gnomAD v4: 8-58595947-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58595947A>G , CM000670.2:g.58595947A>G GRCh38
NC_000008.10:g.59508506A>G , CM000670.1:g.59508506A>G GRCh37
NC_000008.9:g.59671060A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000038176.8:c.1793-288T>C MANE Select ENSP00000038176.3:n.1793-288T>C
ENST00000649465.1:c.*1932-288T>C ENSP00000498107.1:n.*1932-288T>C
ENST00000038176.7:c.1793-288T>C ENSP00000038176.3:n.1793-288T>C
ENST00000427130.6:c.1886-288T>C ENSP00000411012.2:n.1886-288T>C
ENST00000523106.5:n.457-288T>C
NM_001144772.1:c.1886-288T>C NP_001138244.1:n.1886-288T>C
NM_003580.3:c.1793-288T>C NP_003571.2:n.1793-288T>C
NM_003580.4:c.1793-288T>C MANE Select NP_003571.2:n.1793-288T>C
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