Canonical Allele Identifier: CA385531593

Gene: TSFM

Linked Data

• gnomAD v4: 12-57796443-G-A
• MyVariant Identifiers: chr12:g.58190226G>A (hg19) ; chr12:g.57796443G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57796443G>A , CM000674.2:g.57796443G>A	GRCh38
NC_000012.11:g.58190226G>A , CM000674.1:g.58190226G>A	GRCh37
NC_000012.10:g.56476493G>A	NCBI36
NG_016971.1:g.18699G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000651066.1:c.*980G>A	ENSP00000499143.1:n.*980G>A
ENST00000651284.1:c.*467G>A	ENSP00000499064.1:n.*467G>A
ENST00000651899.1:c.*379G>A	ENSP00000498993.1:n.*379G>A
ENST00000652027.2:c.838G>A MANE Select	ENSP00000499171.2:p.Glu280Lys
ENST00000323833.12:c.901G>A	ENSP00000313877.8:p.Glu301Lys
ENST00000454289.7:c.838G>A	ENSP00000388330.2:p.Glu280Lys
ENST00000540550.6:c.*246G>A	ENSP00000440987.1:n.*246G>A
ENST00000543727.5:c.571+3370G>A	ENSP00000439342.1:n.571+3370G>A
ENST00000548851.5:c.571+3370G>A	ENSP00000450041.1:n.571+3370G>A
ENST00000550559.5:c.571+3370G>A	ENSP00000448575.1:n.571+3370G>A
NM_001172695.1:c.*246G>A	NP_001166166.1:n.*246G>A
NM_001172696.1:c.901G>A	NP_001166167.1:p.Glu301Lys
NM_001172697.1:c.571+3370G>A	NP_001166168.1:n.571+3370G>A
NM_005726.5:c.838G>A	NP_005717.3:p.Glu280Lys
NM_001172695.2:c.*246G>A	NP_001166166.1:n.*246G>A
NM_001172696.2:c.901G>A	NP_001166167.1:p.Glu301Lys
NM_005726.6:c.838G>A MANE Select	NP_005717.3:p.Glu280Lys
NM_001172697.2:c.571+3370G>A	NP_001166168.1:n.571+3370G>A