Canonical Allele Identifier: CA10042831

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 340064
• ClinVar RCV Id: RCV000307435
• dbSNP Id: rs771866484
• ExAC: 21:43816078 T / C
• gnomAD v2: 21-43816078-T-C
• gnomAD v3: 21-42395969-T-C
• gnomAD v4: 21-42395969-T-C
• MyVariant Identifiers: chr21:g.43816078T>C (hg19) ; chr21:g.42395969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42395969T>C , CM000683.2:g.42395969T>C	GRCh38
NC_000021.8:g.43816078T>C , CM000683.1:g.43816078T>C	GRCh37
NC_000021.7:g.42689147T>C	NCBI36
NG_011629.1:g.5123A>G
NG_011629.2:g.5123A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.-79A>G	ENSP00000411013.3:n.-79A>G
ENST00000644384.2:c.-79A>G MANE Select	ENSP00000494414.1:n.-79A>G
ENST00000652415.1:c.-269A>G	ENSP00000498756.1:n.-269A>G
ENST00000291532.7:c.-79A>G	ENSP00000291532.3:n.-79A>G
ENST00000398397.3:c.-79A>G	ENSP00000381434.3:n.-79A>G
ENST00000433957.6:c.-79A>G	ENSP00000411013.2:n.-79A>G
NM_001256317.1:c.-79A>G	NP_001243246.1:n.-79A>G
NM_024022.2:c.-79A>G	NP_076927.1:n.-79A>G
NM_032405.1:c.-79A>G	NP_115781.1:n.-79A>G
NR_046020.1:n.878A>G
NM_001256317.2:c.-79A>G	NP_001243246.1:n.-79A>G
NM_024022.3:c.-79A>G	NP_076927.1:n.-79A>G
NM_032405.2:c.-79A>G	NP_115781.1:n.-79A>G
NM_001256317.3:c.-79A>G MANE Select	NP_001243246.1:n.-79A>G
NM_024022.4:c.-79A>G	NP_076927.1:n.-79A>G