Canonical Allele Identifier: CA137714

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 46118
• ClinVar RCV Id: RCV000039355 ; RCV000730846 ; RCV001375064
• dbSNP Id: rs140614903
• ExAC: 21:43808546 C / T
• gnomAD v2: 21-43808546-C-T
• gnomAD v3: 21-42388437-C-T
• gnomAD v4: 21-42388437-C-T
• COSMIC: COSM3551159 ; COSM3551160 ; COSM3551161
• MyVariant Identifiers: chr21:g.43808546C>T (hg19) ; chr21:g.42388437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388437C>T , CM000683.2:g.42388437C>T	GRCh38
NC_000021.8:g.43808546C>T , CM000683.1:g.43808546C>T	GRCh37
NC_000021.7:g.42681615C>T	NCBI36
NG_011629.1:g.12655G>A
NG_011629.2:g.12655G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.412G>A	ENSP00000411013.3:p.Ala138Thr
ENST00000644384.2:c.412G>A MANE Select	ENSP00000494414.1:p.Ala138Thr
ENST00000652415.1:c.412G>A	ENSP00000498756.1:p.Ala138Thr
ENST00000291532.7:c.412G>A	ENSP00000291532.3:p.Ala138Thr
ENST00000398397.3:c.412G>A	ENSP00000381434.3:p.Ala138Thr
ENST00000398405.5:c.406G>A	ENSP00000381442.1:p.Ala136Thr
ENST00000433957.6:c.412G>A	ENSP00000411013.2:p.Ala138Thr
ENST00000474596.5:n.280G>A
ENST00000482761.1:n.699G>A
NM_001256317.1:c.412G>A	NP_001243246.1:p.Ala138Thr
NM_024022.2:c.412G>A	NP_076927.1:p.Ala138Thr
NM_032404.2:c.31G>A	NP_115780.1:p.Ala11Thr
NM_032405.1:c.412G>A	NP_115781.1:p.Ala138Thr
NR_046020.1:n.1368G>A
NM_001256317.2:c.412G>A	NP_001243246.1:p.Ala138Thr
NM_024022.3:c.412G>A	NP_076927.1:p.Ala138Thr
NM_032405.2:c.412G>A	NP_115781.1:p.Ala138Thr
NM_001256317.3:c.412G>A MANE Select	NP_001243246.1:p.Ala138Thr
NM_024022.4:c.412G>A	NP_076927.1:p.Ala138Thr
NM_032404.3:c.31G>A	NP_115780.1:p.Ala11Thr