Canonical Allele Identifier: CA357064581
Gene: TMPRSS11A HGNC NCBI

Linked Data

gnomAD v4: 4-67932053-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932053T>G , CM000666.2:g.67932053T>G GRCh38
NC_000004.11:g.68797771T>G , CM000666.1:g.68797771T>G GRCh37
NC_000004.10:g.68480366T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.260A>C MANE Select ENSP00000426911.2:p.Glu87Ala
ENST00000334830.11:c.269A>C ENSP00000334611.7:p.Glu90Ala
ENST00000396188.3:c.260A>C ENSP00000379491.3:p.Glu87Ala
ENST00000508048.5:c.260A>C ENSP00000426911.2:p.Glu87Ala
ENST00000513536.5:c.200A>C ENSP00000427621.1:p.Glu67Ala
NM_001114387.1:c.260A>C NP_001107859.1:p.Glu87Ala
NM_182606.3:c.269A>C NP_872412.3:p.Glu90Ala
NM_001114387.2:c.260A>C MANE Select NP_001107859.1:p.Glu87Ala
NM_182606.4:c.269A>C NP_872412.3:p.Glu90Ala