Canonical Allele Identifier: CA1114303139
Gene: NSMAF HGNC NCBI

Linked Data

dbSNP Id: rs1806128494
gnomAD v3: 8-58595968-G-T
gnomAD v4: 8-58595968-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58595968G>T , CM000670.2:g.58595968G>T GRCh38
NC_000008.10:g.59508527G>T , CM000670.1:g.59508527G>T GRCh37
NC_000008.9:g.59671081G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000038176.8:c.1793-309C>A MANE Select ENSP00000038176.3:n.1793-309C>A
ENST00000649465.1:c.*1932-309C>A ENSP00000498107.1:n.*1932-309C>A
ENST00000038176.7:c.1793-309C>A ENSP00000038176.3:n.1793-309C>A
ENST00000427130.6:c.1886-309C>A ENSP00000411012.2:n.1886-309C>A
ENST00000523106.5:n.457-309C>A
NM_001144772.1:c.1886-309C>A NP_001138244.1:n.1886-309C>A
NM_003580.3:c.1793-309C>A NP_003571.2:n.1793-309C>A
NM_003580.4:c.1793-309C>A MANE Select NP_003571.2:n.1793-309C>A
Search 100 bp 5'
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