Canonical Allele Identifier: CA853675110
Gene: NSMAF HGNC NCBI

Linked Data

dbSNP Id: rs1296445455
gnomAD v4: 8-58595933-T-C
MyVariant Identifiers: chr8:g.59508492T>C (hg19) chr8:g.58595933T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58595933T>C , CM000670.2:g.58595933T>C GRCh38
NC_000008.10:g.59508492T>C , CM000670.1:g.59508492T>C GRCh37
NC_000008.9:g.59671046T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000038176.8:c.1793-274A>G MANE Select ENSP00000038176.3:n.1793-274A>G
ENST00000649465.1:c.*1932-274A>G ENSP00000498107.1:n.*1932-274A>G
ENST00000038176.7:c.1793-274A>G ENSP00000038176.3:n.1793-274A>G
ENST00000427130.6:c.1886-274A>G ENSP00000411012.2:n.1886-274A>G
ENST00000523106.5:n.457-274A>G
NM_001144772.1:c.1886-274A>G NP_001138244.1:n.1886-274A>G
NM_003580.3:c.1793-274A>G NP_003571.2:n.1793-274A>G
NM_003580.4:c.1793-274A>G MANE Select NP_003571.2:n.1793-274A>G
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