Canonical Allele Identifier: CA410372912
Gene: TMPRSS3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42382231C>A , CM000683.2:g.42382231C>A GRCh38
NC_000021.8:g.43802340C>A , CM000683.1:g.43802340C>A GRCh37
NC_000021.7:g.42675409C>A NCBI36
NG_011629.1:g.18861G>T
NG_011629.2:g.18861G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.786G>T ENSP00000411013.3:p.Leu262Phe
ENST00000644384.2:c.786G>T MANE Select ENSP00000494414.1:p.Leu262Phe
ENST00000652415.1:c.786G>T ENSP00000498756.1:p.Leu262Phe
ENST00000291532.7:c.786G>T ENSP00000291532.3:p.Leu262Phe
ENST00000398397.3:c.786G>T ENSP00000381434.3:p.Leu262Phe
ENST00000398405.5:c.780G>T ENSP00000381442.1:p.Leu260Phe
ENST00000433957.6:c.786G>T ENSP00000411013.2:p.Leu262Phe
ENST00000474596.5:n.654G>T
ENST00000476848.5:n.1521G>T
ENST00000478680.1:n.63G>T
ENST00000482761.1:n.1073G>T
NM_001256317.1:c.786G>T NP_001243246.1:p.Leu262Phe
NM_024022.2:c.786G>T NP_076927.1:p.Leu262Phe
NM_032404.2:c.405G>T NP_115780.1:p.Leu135Phe
NM_032405.1:c.786G>T NP_115781.1:p.Leu262Phe
NR_046020.1:n.1742G>T
NM_001256317.2:c.786G>T NP_001243246.1:p.Leu262Phe
NM_024022.3:c.786G>T NP_076927.1:p.Leu262Phe
NM_032405.2:c.786G>T NP_115781.1:p.Leu262Phe
NM_001256317.3:c.786G>T MANE Select NP_001243246.1:p.Leu262Phe
NM_024022.4:c.786G>T NP_076927.1:p.Leu262Phe
NM_032404.3:c.405G>T NP_115780.1:p.Leu135Phe