Canonical Allele Identifier: CA2687375247

Gene: NSMAF

Linked Data

• gnomAD v4: 8-58595971-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.58595971A>C , CM000670.2:g.58595971A>C	GRCh38
NC_000008.10:g.59508530A>C , CM000670.1:g.59508530A>C	GRCh37
NC_000008.9:g.59671084A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000038176.8:c.1793-312T>G MANE Select	ENSP00000038176.3:n.1793-312T>G
ENST00000649465.1:c.*1932-312T>G	ENSP00000498107.1:n.*1932-312T>G
ENST00000038176.7:c.1793-312T>G	ENSP00000038176.3:n.1793-312T>G
ENST00000427130.6:c.1886-312T>G	ENSP00000411012.2:n.1886-312T>G
ENST00000523106.5:n.457-312T>G
NM_001144772.1:c.1886-312T>G	NP_001138244.1:n.1886-312T>G
NM_003580.3:c.1793-312T>G	NP_003571.2:n.1793-312T>G
NM_003580.4:c.1793-312T>G MANE Select	NP_003571.2:n.1793-312T>G