Canonical Allele Identifier: CA410372418

Gene: TMPRSS3

Linked Data

• MyVariant Identifiers: chr21:g.43802179A>C (hg19) ; chr21:g.42382070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382070A>C , CM000683.2:g.42382070A>C	GRCh38
NC_000021.8:g.43802179A>C , CM000683.1:g.43802179A>C	GRCh37
NC_000021.7:g.42675248A>C	NCBI36
NG_011629.1:g.19022T>G
NG_011629.2:g.19022T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.947T>G	ENSP00000411013.3:p.Phe316Cys
ENST00000644384.2:c.947T>G MANE Select	ENSP00000494414.1:p.Phe316Cys
ENST00000652415.1:c.947T>G	ENSP00000498756.1:p.Phe316Cys
ENST00000291532.7:c.947T>G	ENSP00000291532.3:p.Phe316Cys
ENST00000398397.3:c.947T>G	ENSP00000381434.3:p.Phe316Cys
ENST00000398405.5:c.941T>G	ENSP00000381442.1:p.Phe314Cys
ENST00000433957.6:c.947T>G	ENSP00000411013.2:p.Phe316Cys
ENST00000474596.5:n.815T>G
ENST00000476848.5:n.1682T>G
ENST00000478680.1:n.224T>G
ENST00000482761.1:n.1234T>G
NM_001256317.1:c.947T>G	NP_001243246.1:p.Phe316Cys
NM_024022.2:c.947T>G	NP_076927.1:p.Phe316Cys
NM_032404.2:c.566T>G	NP_115780.1:p.Phe189Cys
NM_032405.1:c.947T>G	NP_115781.1:p.Phe316Cys
NR_046020.1:n.1903T>G
NM_001256317.2:c.947T>G	NP_001243246.1:p.Phe316Cys
NM_024022.3:c.947T>G	NP_076927.1:p.Phe316Cys
NM_032405.2:c.947T>G	NP_115781.1:p.Phe316Cys
NM_001256317.3:c.947T>G MANE Select	NP_001243246.1:p.Phe316Cys
NM_024022.4:c.947T>G	NP_076927.1:p.Phe316Cys
NM_032404.3:c.566T>G	NP_115780.1:p.Phe189Cys