Canonical Allele Identifier: CA2939718
Gene: TMPRSS11A HGNC NCBI

Linked Data

dbSNP Id: rs775824846
gnomAD v2: 4-68797737-A-G
gnomAD v4: 4-67932019-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932019A>G , CM000666.2:g.67932019A>G GRCh38
NC_000004.11:g.68797737A>G , CM000666.1:g.68797737A>G GRCh37
NC_000004.10:g.68480332A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.294T>C MANE Select ENSP00000426911.2:p.Tyr98=
ENST00000334830.11:c.303T>C ENSP00000334611.7:p.Tyr101=
ENST00000396188.3:c.294T>C ENSP00000379491.3:p.Tyr98=
ENST00000508048.5:c.294T>C ENSP00000426911.2:p.Tyr98=
ENST00000513536.5:c.234T>C ENSP00000427621.1:p.Tyr78=
NM_001114387.1:c.294T>C NP_001107859.1:p.Tyr98=
NM_182606.3:c.303T>C NP_872412.3:p.Tyr101=
NM_001114387.2:c.294T>C MANE Select NP_001107859.1:p.Tyr98=
NM_182606.4:c.303T>C NP_872412.3:p.Tyr101=