Canonical Allele Identifier: CA357064419
Gene: TMPRSS11A HGNC NCBI

Linked Data

gnomAD v4: 4-67932014-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932014T>C , CM000666.2:g.67932014T>C GRCh38
NC_000004.11:g.68797732T>C , CM000666.1:g.68797732T>C GRCh37
NC_000004.10:g.68480327T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.299A>G MANE Select ENSP00000426911.2:p.Lys100Arg
ENST00000334830.11:c.308A>G ENSP00000334611.7:p.Lys103Arg
ENST00000396188.3:c.299A>G ENSP00000379491.3:p.Lys100Arg
ENST00000508048.5:c.299A>G ENSP00000426911.2:p.Lys100Arg
ENST00000513536.5:c.239A>G ENSP00000427621.1:p.Lys80Arg
NM_001114387.1:c.299A>G NP_001107859.1:p.Lys100Arg
NM_182606.3:c.308A>G NP_872412.3:p.Lys103Arg
NM_001114387.2:c.299A>G MANE Select NP_001107859.1:p.Lys100Arg
NM_182606.4:c.308A>G NP_872412.3:p.Lys103Arg