Canonical Allele Identifier: CA410373033
Gene: TMPRSS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1705615
ClinVar RCV Id: RCV002283929
MyVariant Identifiers: chr21:g.43803153G>C (hg19) chr21:g.42383044G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42383044G>C , CM000683.2:g.42383044G>C GRCh38
NC_000021.8:g.43803153G>C , CM000683.1:g.43803153G>C GRCh37
NC_000021.7:g.42676222G>C NCBI36
NG_011629.1:g.18048C>G
NG_011629.2:g.18048C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.771C>G ENSP00000411013.3:p.His257Gln
ENST00000644384.2:c.771C>G MANE Select ENSP00000494414.1:p.His257Gln
ENST00000652415.1:c.771C>G ENSP00000498756.1:p.His257Gln
ENST00000291532.7:c.771C>G ENSP00000291532.3:p.His257Gln
ENST00000398397.3:c.771C>G ENSP00000381434.3:p.His257Gln
ENST00000398405.5:c.765C>G ENSP00000381442.1:p.His255Gln
ENST00000433957.6:c.771C>G ENSP00000411013.2:p.His257Gln
ENST00000474596.5:n.639C>G
ENST00000476848.5:n.708C>G
ENST00000482761.1:n.1058C>G
NM_001256317.1:c.771C>G NP_001243246.1:p.His257Gln
NM_024022.2:c.771C>G NP_076927.1:p.His257Gln
NM_032404.2:c.390C>G NP_115780.1:p.His130Gln
NM_032405.1:c.771C>G NP_115781.1:p.His257Gln
NR_046020.1:n.1727C>G
NM_001256317.2:c.771C>G NP_001243246.1:p.His257Gln
NM_024022.3:c.771C>G NP_076927.1:p.His257Gln
NM_032405.2:c.771C>G NP_115781.1:p.His257Gln
NM_001256317.3:c.771C>G MANE Select NP_001243246.1:p.His257Gln
NM_024022.4:c.771C>G NP_076927.1:p.His257Gln
NM_032404.3:c.390C>G NP_115780.1:p.His130Gln
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