Canonical Allele Identifier: CA385531643
Gene: TSFM HGNC NCBI

Linked Data

dbSNP Id: rs1955741013

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57796449A>G , CM000674.2:g.57796449A>G GRCh38
NC_000012.11:g.58190232A>G , CM000674.1:g.58190232A>G GRCh37
NC_000012.10:g.56476499A>G NCBI36
NG_016971.1:g.18705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651066.1:c.*986A>G ENSP00000499143.1:n.*986A>G
ENST00000651284.1:c.*473A>G ENSP00000499064.1:n.*473A>G
ENST00000651899.1:c.*385A>G ENSP00000498993.1:n.*385A>G
ENST00000652027.2:c.844A>G MANE Select ENSP00000499171.2:p.Lys282Glu
ENST00000323833.12:c.907A>G ENSP00000313877.8:p.Lys303Glu
ENST00000454289.7:c.844A>G ENSP00000388330.2:p.Lys282Glu
ENST00000540550.6:c.*252A>G ENSP00000440987.1:n.*252A>G
ENST00000543727.5:c.571+3376A>G ENSP00000439342.1:n.571+3376A>G
ENST00000548851.5:c.571+3376A>G ENSP00000450041.1:n.571+3376A>G
ENST00000550559.5:c.571+3376A>G ENSP00000448575.1:n.571+3376A>G
NM_001172695.1:c.*252A>G NP_001166166.1:n.*252A>G
NM_001172696.1:c.907A>G NP_001166167.1:p.Lys303Glu
NM_001172697.1:c.571+3376A>G NP_001166168.1:n.571+3376A>G
NM_005726.5:c.844A>G NP_005717.3:p.Lys282Glu
NM_001172695.2:c.*252A>G NP_001166166.1:n.*252A>G
NM_001172696.2:c.907A>G NP_001166167.1:p.Lys303Glu
NM_005726.6:c.844A>G MANE Select NP_005717.3:p.Lys282Glu
NM_001172697.2:c.571+3376A>G NP_001166168.1:n.571+3376A>G