Canonical Allele Identifier: CA177328882
Gene: NSMAF HGNC NCBI

Linked Data

dbSNP Id: rs11780640

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.58603001T>G , CM000670.2:g.58603001T>G GRCh38
NC_000008.10:g.59515560T>G , CM000670.1:g.59515560T>G GRCh37
NC_000008.9:g.59678114T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000038176.8:c.1045+209A>C MANE Select ENSP00000038176.3:n.1045+209A>C
ENST00000649465.1:c.*1171+209A>C ENSP00000498107.1:n.*1171+209A>C
ENST00000038176.7:c.1045+209A>C ENSP00000038176.3:n.1045+209A>C
ENST00000427130.6:c.1138+209A>C ENSP00000411012.2:n.1138+209A>C
ENST00000519858.1:n.584+209A>C
NM_001144772.1:c.1138+209A>C NP_001138244.1:n.1138+209A>C
NM_003580.3:c.1045+209A>C NP_003571.2:n.1045+209A>C
NM_003580.4:c.1045+209A>C MANE Select NP_003571.2:n.1045+209A>C