Canonical Allele Identifier: CA137733

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 46133
• ClinVar RCV Id: RCV000039370 ; RCV002054758 ; RCV002496627
• dbSNP Id: rs115489719
• ExAC: 21:43802157 T / C
• gnomAD v2: 21-43802157-T-C
• gnomAD v3: 21-42382048-T-C
• gnomAD v4: 21-42382048-T-C
• MyVariant Identifiers: chr21:g.43802157T>C (hg19) ; chr21:g.42382048T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382048T>C , CM000683.2:g.42382048T>C	GRCh38
NC_000021.8:g.43802157T>C , CM000683.1:g.43802157T>C	GRCh37
NC_000021.7:g.42675226T>C	NCBI36
NG_011629.1:g.19044A>G
NG_011629.2:g.19044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952+17A>G	ENSP00000411013.3:n.952+17A>G
ENST00000644384.2:c.952+17A>G MANE Select	ENSP00000494414.1:n.952+17A>G
ENST00000652415.1:c.952+17A>G	ENSP00000498756.1:n.952+17A>G
ENST00000291532.7:c.952+17A>G	ENSP00000291532.3:n.952+17A>G
ENST00000398397.3:c.969A>G	ENSP00000381434.3:p.Leu323=
ENST00000398405.5:c.946+17A>G	ENSP00000381442.1:n.946+17A>G
ENST00000433957.6:c.952+17A>G	ENSP00000411013.2:n.952+17A>G
ENST00000474596.5:n.820+17A>G
ENST00000476848.5:n.1687+17A>G
ENST00000478680.1:n.246A>G
ENST00000482761.1:n.1239+17A>G
NM_001256317.1:c.952+17A>G	NP_001243246.1:n.952+17A>G
NM_024022.2:c.952+17A>G	NP_076927.1:n.952+17A>G
NM_032404.2:c.571+17A>G	NP_115780.1:n.571+17A>G
NM_032405.1:c.969A>G	NP_115781.1:p.Leu323=
NR_046020.1:n.1908+17A>G
NM_001256317.2:c.952+17A>G	NP_001243246.1:n.952+17A>G
NM_024022.3:c.952+17A>G	NP_076927.1:n.952+17A>G
NM_032405.2:c.969A>G	NP_115781.1:p.Leu323=
NM_001256317.3:c.952+17A>G MANE Select	NP_001243246.1:n.952+17A>G
NM_024022.4:c.952+17A>G	NP_076927.1:n.952+17A>G
NM_032404.3:c.571+17A>G	NP_115780.1:n.571+17A>G