Canonical Allele Identifier: CA10042693

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 440339
• ClinVar RCV Id: RCV000506390 ; RCV001140697
• dbSNP Id: rs143762350
• ExAC: 21:43809080 C / T
• gnomAD v2: 21-43809080-C-T
• gnomAD v3: 21-42388971-C-T
• gnomAD v4: 21-42388971-C-T
• COSMIC: COSM2819754 ; COSM3551168 ; COSM3551169
• MyVariant Identifiers: chr21:g.43809080C>T (hg19) ; chr21:g.42388971C>T (hg38)
• PubMed: PMID:23967202 ; PMID:25770132

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388971C>T , CM000683.2:g.42388971C>T	GRCh38
NC_000021.8:g.43809080C>T , CM000683.1:g.43809080C>T	GRCh37
NC_000021.7:g.42682149C>T	NCBI36
NG_011629.1:g.12121G>A
NG_011629.2:g.12121G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.280G>A	ENSP00000411013.3:p.Gly94Arg
ENST00000644384.2:c.280G>A MANE Select	ENSP00000494414.1:p.Gly94Arg
ENST00000652415.1:c.280G>A	ENSP00000498756.1:p.Gly94Arg
ENST00000291532.7:c.280G>A	ENSP00000291532.3:p.Gly94Arg
ENST00000398397.3:c.280G>A	ENSP00000381434.3:p.Gly94Arg
ENST00000398405.5:c.274G>A	ENSP00000381442.1:p.Gly92Arg
ENST00000433957.6:c.280G>A	ENSP00000411013.2:p.Gly94Arg
ENST00000474596.5:n.148G>A
ENST00000482761.1:n.567G>A
NM_001256317.1:c.280G>A	NP_001243246.1:p.Gly94Arg
NM_024022.2:c.280G>A	NP_076927.1:p.Gly94Arg
NM_032404.2:c.-102G>A	NP_115780.1:n.-102G>A
NM_032405.1:c.280G>A	NP_115781.1:p.Gly94Arg
NR_046020.1:n.1236G>A
NM_001256317.2:c.280G>A	NP_001243246.1:p.Gly94Arg
NM_024022.3:c.280G>A	NP_076927.1:p.Gly94Arg
NM_032405.2:c.280G>A	NP_115781.1:p.Gly94Arg
NM_001256317.3:c.280G>A MANE Select	NP_001243246.1:p.Gly94Arg
NM_024022.4:c.280G>A	NP_076927.1:p.Gly94Arg
NM_032404.3:c.-102G>A	NP_115780.1:n.-102G>A