Canonical Allele Identifier: CA410373238
Gene: TMPRSS3 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42383088C>A , CM000683.2:g.42383088C>A GRCh38
NC_000021.8:g.43803197C>A , CM000683.1:g.43803197C>A GRCh37
NC_000021.7:g.42676266C>A NCBI36
NG_011629.1:g.18004G>T
NG_011629.2:g.18004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.727G>T ENSP00000411013.3:p.Gly243Trp
ENST00000644384.2:c.727G>T MANE Select ENSP00000494414.1:p.Gly243Trp
ENST00000652415.1:c.727G>T ENSP00000498756.1:p.Gly243Trp
ENST00000291532.7:c.727G>T ENSP00000291532.3:p.Gly243Trp
ENST00000398397.3:c.727G>T ENSP00000381434.3:p.Gly243Trp
ENST00000398405.5:c.721G>T ENSP00000381442.1:p.Gly241Trp
ENST00000433957.6:c.727G>T ENSP00000411013.2:p.Gly243Trp
ENST00000474596.5:n.595G>T
ENST00000476848.5:n.664G>T
ENST00000482761.1:n.1014G>T
NM_001256317.1:c.727G>T NP_001243246.1:p.Gly243Trp
NM_024022.2:c.727G>T NP_076927.1:p.Gly243Trp
NM_032404.2:c.346G>T NP_115780.1:p.Gly116Trp
NM_032405.1:c.727G>T NP_115781.1:p.Gly243Trp
NR_046020.1:n.1683G>T
NM_001256317.2:c.727G>T NP_001243246.1:p.Gly243Trp
NM_024022.3:c.727G>T NP_076927.1:p.Gly243Trp
NM_032405.2:c.727G>T NP_115781.1:p.Gly243Trp
NM_001256317.3:c.727G>T MANE Select NP_001243246.1:p.Gly243Trp
NM_024022.4:c.727G>T NP_076927.1:p.Gly243Trp
NM_032404.3:c.346G>T NP_115780.1:p.Gly116Trp