Canonical Allele Identifier: CA2939714

Gene: TMPRSS11A

Linked Data

• dbSNP Id: rs771841852
• ExAC: 4:68797720 A / G
• gnomAD v4: 4-67932002-A-G
• MyVariant Identifiers: chr4:g.68797720A>G (hg19) ; chr4:g.67932002A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67932002A>G , CM000666.2:g.67932002A>G	GRCh38
NC_000004.11:g.68797720A>G , CM000666.1:g.68797720A>G	GRCh37
NC_000004.10:g.68480315A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508048.6:c.311T>C MANE Select	ENSP00000426911.2:p.Val104Ala
ENST00000334830.11:c.320T>C	ENSP00000334611.7:p.Val107Ala
ENST00000396188.3:c.311T>C	ENSP00000379491.3:p.Val104Ala
ENST00000508048.5:c.311T>C	ENSP00000426911.2:p.Val104Ala
ENST00000513536.5:c.251T>C	ENSP00000427621.1:p.Val84Ala
NM_001114387.1:c.311T>C	NP_001107859.1:p.Val104Ala
NM_182606.3:c.320T>C	NP_872412.3:p.Val107Ala
NM_001114387.2:c.311T>C MANE Select	NP_001107859.1:p.Val104Ala
NM_182606.4:c.320T>C	NP_872412.3:p.Val107Ala