Canonical Allele Identifier: CA16609583
Gene: TMPRSS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 402283
ClinVar RCV Id: RCV000454259
dbSNP Id: rs1060499811

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42384004A>T , CM000683.2:g.42384004A>T GRCh38
NC_000021.8:g.43804113A>T , CM000683.1:g.43804113A>T GRCh37
NC_000021.7:g.42677182A>T NCBI36
NG_011629.1:g.17088T>A
NG_011629.2:g.17088T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000433957.7:c.582T>A ENSP00000411013.3:p.Cys194Ter
ENST00000644384.2:c.582T>A MANE Select ENSP00000494414.1:p.Cys194Ter
ENST00000652415.1:c.582T>A ENSP00000498756.1:p.Cys194Ter
ENST00000291532.7:c.582T>A ENSP00000291532.3:p.Cys194Ter
ENST00000398397.3:c.582T>A ENSP00000381434.3:p.Cys194Ter
ENST00000398405.5:c.576T>A ENSP00000381442.1:p.Cys192Ter
ENST00000433957.6:c.582T>A ENSP00000411013.2:p.Cys194Ter
ENST00000474596.5:n.450T>A
ENST00000482761.1:n.869T>A
NM_001256317.1:c.582T>A NP_001243246.1:p.Cys194Ter
NM_024022.2:c.582T>A NP_076927.1:p.Cys194Ter
NM_032404.2:c.201T>A NP_115780.1:p.Cys67Ter
NM_032405.1:c.582T>A NP_115781.1:p.Cys194Ter
NR_046020.1:n.1538T>A
NM_001256317.2:c.582T>A NP_001243246.1:p.Cys194Ter
NM_024022.3:c.582T>A NP_076927.1:p.Cys194Ter
NM_032405.2:c.582T>A NP_115781.1:p.Cys194Ter
NM_001256317.3:c.582T>A MANE Select NP_001243246.1:p.Cys194Ter
NM_024022.4:c.582T>A NP_076927.1:p.Cys194Ter
NM_032404.3:c.201T>A NP_115780.1:p.Cys67Ter