Canonical Allele Identifier: CA10042590

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2498898
• ClinVar RCV Id: RCV003223107
• dbSNP Id: rs747054153
• ExAC: 21:43805523 A / C
• gnomAD v2: 21-43805523-A-C
• gnomAD v4: 21-42385414-A-C
• MyVariant Identifiers: chr21:g.43805523A>C (hg19) ; chr21:g.42385414A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385414A>C , CM000683.2:g.42385414A>C	GRCh38
NC_000021.8:g.43805523A>C , CM000683.1:g.43805523A>C	GRCh37
NC_000021.7:g.42678592A>C	NCBI36
NG_011629.1:g.15678T>G
NG_011629.2:g.15678T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.567T>G	ENSP00000411013.3:p.Tyr189Ter
ENST00000644384.2:c.567T>G MANE Select	ENSP00000494414.1:p.Tyr189Ter
ENST00000652415.1:c.567T>G	ENSP00000498756.1:p.Tyr189Ter
ENST00000291532.7:c.567T>G	ENSP00000291532.3:p.Tyr189Ter
ENST00000398397.3:c.567T>G	ENSP00000381434.3:p.Tyr189Ter
ENST00000398405.5:c.561T>G	ENSP00000381442.1:p.Tyr187Ter
ENST00000433957.6:c.567T>G	ENSP00000411013.2:p.Tyr189Ter
ENST00000474596.5:n.435T>G
ENST00000482761.1:n.854T>G
NM_001256317.1:c.567T>G	NP_001243246.1:p.Tyr189Ter
NM_024022.2:c.567T>G	NP_076927.1:p.Tyr189Ter
NM_032404.2:c.186T>G	NP_115780.1:p.Tyr62Ter
NM_032405.1:c.567T>G	NP_115781.1:p.Tyr189Ter
NR_046020.1:n.1523T>G
NM_001256317.2:c.567T>G	NP_001243246.1:p.Tyr189Ter
NM_024022.3:c.567T>G	NP_076927.1:p.Tyr189Ter
NM_032405.2:c.567T>G	NP_115781.1:p.Tyr189Ter
NM_001256317.3:c.567T>G MANE Select	NP_001243246.1:p.Tyr189Ter
NM_024022.4:c.567T>G	NP_076927.1:p.Tyr189Ter
NM_032404.3:c.186T>G	NP_115780.1:p.Tyr62Ter