Canonical Allele Identifier: CA357064602
Gene: TMPRSS11A HGNC NCBI

Linked Data

gnomAD v4: 4-67932059-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.67932059A>G , CM000666.2:g.67932059A>G GRCh38
NC_000004.11:g.68797777A>G , CM000666.1:g.68797777A>G GRCh37
NC_000004.10:g.68480372A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000508048.6:c.254T>C MANE Select ENSP00000426911.2:p.Val85Ala
ENST00000334830.11:c.263T>C ENSP00000334611.7:p.Val88Ala
ENST00000396188.3:c.254T>C ENSP00000379491.3:p.Val85Ala
ENST00000508048.5:c.254T>C ENSP00000426911.2:p.Val85Ala
ENST00000513536.5:c.194T>C ENSP00000427621.1:p.Val65Ala
NM_001114387.1:c.254T>C NP_001107859.1:p.Val85Ala
NM_182606.3:c.263T>C NP_872412.3:p.Val88Ala
NM_001114387.2:c.254T>C MANE Select NP_001107859.1:p.Val85Ala
NM_182606.4:c.263T>C NP_872412.3:p.Val88Ala