Canonical Allele Identifier: CA357064397
Gene: TMPRSS11A HGNC NCBI

Linked Data

dbSNP Id: rs1410749033
gnomAD v3: 4-67932003-C-T
gnomAD v4: 4-67932003-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932003C>T , CM000666.2:g.67932003C>T GRCh38
NC_000004.11:g.68797721C>T , CM000666.1:g.68797721C>T GRCh37
NC_000004.10:g.68480316C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.310G>A MANE Select ENSP00000426911.2:p.Val104Ile
ENST00000334830.11:c.319G>A ENSP00000334611.7:p.Val107Ile
ENST00000396188.3:c.310G>A ENSP00000379491.3:p.Val104Ile
ENST00000508048.5:c.310G>A ENSP00000426911.2:p.Val104Ile
ENST00000513536.5:c.250G>A ENSP00000427621.1:p.Val84Ile
NM_001114387.1:c.310G>A NP_001107859.1:p.Val104Ile
NM_182606.3:c.319G>A NP_872412.3:p.Val107Ile
NM_001114387.2:c.310G>A MANE Select NP_001107859.1:p.Val104Ile
NM_182606.4:c.319G>A NP_872412.3:p.Val107Ile