Canonical Allele Identifier: CA2939708
Gene: TMPRSS11A HGNC NCBI

Linked Data

dbSNP Id: rs755642148
gnomAD v2: 4-68797696-C-T
gnomAD v4: 4-67931978-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67931978C>T , CM000666.2:g.67931978C>T GRCh38
NC_000004.11:g.68797696C>T , CM000666.1:g.68797696C>T GRCh37
NC_000004.10:g.68480291C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.320+15G>A MANE Select ENSP00000426911.2:n.320+15G>A
ENST00000334830.11:c.329+15G>A ENSP00000334611.7:n.329+15G>A
ENST00000396188.3:c.320+15G>A ENSP00000379491.3:n.320+15G>A
ENST00000508048.5:c.320+15G>A ENSP00000426911.2:n.320+15G>A
ENST00000513536.5:c.260+15G>A ENSP00000427621.1:n.260+15G>A
NM_001114387.1:c.320+15G>A NP_001107859.1:n.320+15G>A
NM_182606.3:c.329+15G>A NP_872412.3:n.329+15G>A
NM_001114387.2:c.320+15G>A MANE Select NP_001107859.1:n.320+15G>A
NM_182606.4:c.329+15G>A NP_872412.3:n.329+15G>A