Canonical Allele Identifier: CA357064536
Gene: TMPRSS11A HGNC NCBI

Linked Data

gnomAD v4: 4-67932045-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932045T>C , CM000666.2:g.67932045T>C GRCh38
NC_000004.11:g.68797763T>C , CM000666.1:g.68797763T>C GRCh37
NC_000004.10:g.68480358T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.268A>G MANE Select ENSP00000426911.2:p.Ile90Val
ENST00000334830.11:c.277A>G ENSP00000334611.7:p.Ile93Val
ENST00000396188.3:c.268A>G ENSP00000379491.3:p.Ile90Val
ENST00000508048.5:c.268A>G ENSP00000426911.2:p.Ile90Val
ENST00000513536.5:c.208A>G ENSP00000427621.1:p.Ile70Val
NM_001114387.1:c.268A>G NP_001107859.1:p.Ile90Val
NM_182606.3:c.277A>G NP_872412.3:p.Ile93Val
NM_001114387.2:c.268A>G MANE Select NP_001107859.1:p.Ile90Val
NM_182606.4:c.277A>G NP_872412.3:p.Ile93Val