Canonical Allele Identifier: CA10042488
Community Standard Title: NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
Gene: TMPRSS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42383072G>A , CM000683.2:g.42383072G>A GRCh38
NC_000021.8:g.43803181G>A , CM000683.1:g.43803181G>A GRCh37
NC_000021.7:g.42676250G>A NCBI36
NG_011629.1:g.18020C>T
NG_011629.2:g.18020C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001256317.3:c.743C>T MANE Select NP_001243246.1:p.Thr248Met
ENST00000644384.2:c.743C>T MANE Select ENSP00000494414.1:p.Thr248Met
NM_001256317.1:c.743C>T NP_001243246.1:p.Thr248Met
NM_001256317.2:c.743C>T NP_001243246.1:p.Thr248Met
NM_024022.2:c.743C>T NP_076927.1:p.Thr248Met
NM_024022.3:c.743C>T NP_076927.1:p.Thr248Met
NM_024022.4:c.743C>T NP_076927.1:p.Thr248Met
NM_032404.2:c.362C>T NP_115780.1:p.Thr121Met
NM_032404.3:c.362C>T NP_115780.1:p.Thr121Met
NM_032405.1:c.743C>T NP_115781.1:p.Thr248Met
NM_032405.2:c.743C>T NP_115781.1:p.Thr248Met
NR_046020.1:n.1699C>T
ENST00000291532.7:c.743C>T ENSP00000291532.3:p.Thr248Met
ENST00000398397.3:c.743C>T ENSP00000381434.3:p.Thr248Met
ENST00000398405.5:c.737C>T ENSP00000381442.1:p.Thr246Met
ENST00000433957.6:c.743C>T ENSP00000411013.2:p.Thr248Met
ENST00000433957.7:c.743C>T ENSP00000411013.3:p.Thr248Met
ENST00000474596.5:n.611C>T
ENST00000476848.5:n.680C>T
ENST00000482761.1:n.1030C>T
ENST00000652415.1:c.743C>T ENSP00000498756.1:p.Thr248Met