Canonical Allele Identifier: CA259827

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 30493
• ClinVar RCV Id: RCV000023450
• dbSNP Id: rs387906915
• MyVariant Identifiers: chr21:g.43809052T>C (hg19) ; chr21:g.42388943T>C (hg38)
• PubMed: PMID:11907649

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388943T>C , CM000683.2:g.42388943T>C	GRCh38
NC_000021.8:g.43809052T>C , CM000683.1:g.43809052T>C	GRCh37
NC_000021.7:g.42682121T>C	NCBI36
NG_011629.1:g.12149A>G
NG_011629.2:g.12149A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.308A>G	ENSP00000411013.3:p.Asp103Gly
ENST00000644384.2:c.308A>G MANE Select	ENSP00000494414.1:p.Asp103Gly
ENST00000652415.1:c.308A>G	ENSP00000498756.1:p.Asp103Gly
ENST00000291532.7:c.308A>G	ENSP00000291532.3:p.Asp103Gly
ENST00000398397.3:c.308A>G	ENSP00000381434.3:p.Asp103Gly
ENST00000398405.5:c.302A>G	ENSP00000381442.1:p.Asp101Gly
ENST00000433957.6:c.308A>G	ENSP00000411013.2:p.Asp103Gly
ENST00000474596.5:n.176A>G
ENST00000482761.1:n.595A>G
NM_001256317.1:c.308A>G	NP_001243246.1:p.Asp103Gly
NM_024022.2:c.308A>G	NP_076927.1:p.Asp103Gly
NM_032404.2:c.-74A>G	NP_115780.1:n.-74A>G
NM_032405.1:c.308A>G	NP_115781.1:p.Asp103Gly
NR_046020.1:n.1264A>G
NM_001256317.2:c.308A>G	NP_001243246.1:p.Asp103Gly
NM_024022.3:c.308A>G	NP_076927.1:p.Asp103Gly
NM_032405.2:c.308A>G	NP_115781.1:p.Asp103Gly
NM_001256317.3:c.308A>G MANE Select	NP_001243246.1:p.Asp103Gly
NM_024022.4:c.308A>G	NP_076927.1:p.Asp103Gly
NM_032404.3:c.-74A>G	NP_115780.1:n.-74A>G