Canonical Allele Identifier: CA2502345782
Gene: TMPRSS11A HGNC NCBI

Linked Data

gnomAD v4: 4-67931987-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67931987A>G , CM000666.2:g.67931987A>G GRCh38
NC_000004.11:g.68797705A>G , CM000666.1:g.68797705A>G GRCh37
NC_000004.10:g.68480300A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.320+6T>C MANE Select ENSP00000426911.2:n.320+6T>C
ENST00000334830.11:c.329+6T>C ENSP00000334611.7:n.329+6T>C
ENST00000396188.3:c.320+6T>C ENSP00000379491.3:n.320+6T>C
ENST00000508048.5:c.320+6T>C ENSP00000426911.2:n.320+6T>C
ENST00000513536.5:c.260+6T>C ENSP00000427621.1:n.260+6T>C
NM_001114387.1:c.320+6T>C NP_001107859.1:n.320+6T>C
NM_182606.3:c.329+6T>C NP_872412.3:n.329+6T>C
NM_001114387.2:c.320+6T>C MANE Select NP_001107859.1:n.320+6T>C
NM_182606.4:c.329+6T>C NP_872412.3:n.329+6T>C