Canonical Allele Identifier: CA261818

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 46127
• ClinVar RCV Id: RCV000039364 ; RCV001558227 ; RCV003485531
• dbSNP Id: rs137853000
• ExAC: 21:43803277 C / T
• gnomAD v2: 21-43803277-C-T
• gnomAD v3: 21-42383168-C-T
• gnomAD v4: 21-42383168-C-T
• MyVariant Identifiers: chr21:g.43803277C>T (hg19) ; chr21:g.42383168C>T (hg38)
• PubMed: PMID:12920079 ; PMID:16021470 ; PMID:17551081

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42383168C>T , CM000683.2:g.42383168C>T	GRCh38
NC_000021.8:g.43803277C>T , CM000683.1:g.43803277C>T	GRCh37
NC_000021.7:g.42676346C>T	NCBI36
NG_011629.1:g.17924G>A
NG_011629.2:g.17924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.647G>A	ENSP00000411013.3:p.Arg216His
ENST00000644384.2:c.647G>A MANE Select	ENSP00000494414.1:p.Arg216His
ENST00000652415.1:c.647G>A	ENSP00000498756.1:p.Arg216His
ENST00000291532.7:c.647G>A	ENSP00000291532.3:p.Arg216His
ENST00000398397.3:c.647G>A	ENSP00000381434.3:p.Arg216His
ENST00000398405.5:c.641G>A	ENSP00000381442.1:p.Arg214His
ENST00000433957.6:c.647G>A	ENSP00000411013.2:p.Arg216His
ENST00000474596.5:n.515G>A
ENST00000476848.5:n.584G>A
ENST00000482761.1:n.934G>A
NM_001256317.1:c.647G>A	NP_001243246.1:p.Arg216His
NM_024022.2:c.647G>A	NP_076927.1:p.Arg216His
NM_032404.2:c.266G>A	NP_115780.1:p.Arg89His
NM_032405.1:c.647G>A	NP_115781.1:p.Arg216His
NR_046020.1:n.1603G>A
NM_001256317.2:c.647G>A	NP_001243246.1:p.Arg216His
NM_024022.3:c.647G>A	NP_076927.1:p.Arg216His
NM_032405.2:c.647G>A	NP_115781.1:p.Arg216His
NM_001256317.3:c.647G>A MANE Select	NP_001243246.1:p.Arg216His
NM_024022.4:c.647G>A	NP_076927.1:p.Arg216His
NM_032404.3:c.266G>A	NP_115780.1:p.Arg89His