Canonical Allele Identifier: CA253353
Gene: TMPRSS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4945
ClinVar RCV Id: RCV000005233 RCV001813955 RCV003555923
dbSNP Id: rs28939084
ExAC: 21:43795961 G / A
gnomAD v2: 21-43795961-G-A
gnomAD v3: 21-42375852-G-A
gnomAD v4: 21-42375852-G-A
MyVariant Identifiers: chr21:g.43795961G>A (hg19) chr21:g.42375852G>A (hg38)
PubMed: PMID:11462234 PMID:16021470
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42375852G>A , CM000683.2:g.42375852G>A GRCh38
NC_000021.8:g.43795961G>A , CM000683.1:g.43795961G>A GRCh37
NC_000021.7:g.42669030G>A NCBI36
NG_011629.1:g.25240C>T
NG_011629.2:g.25240C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000433957.7:c.1211C>T ENSP00000411013.3:p.Pro404Leu
ENST00000644384.2:c.1208C>T MANE Select ENSP00000494414.1:p.Pro403Leu
ENST00000652415.1:c.1208C>T ENSP00000498756.1:p.Pro403Leu
ENST00000291532.7:c.1211C>T ENSP00000291532.3:p.Pro404Leu
ENST00000398405.5:c.1202C>T ENSP00000381442.1:p.Pro401Leu
ENST00000433957.6:c.1208C>T ENSP00000411013.2:p.Pro403Leu
ENST00000474596.5:n.1079C>T
ENST00000476848.5:n.1943C>T
ENST00000482761.1:n.1498C>T
NM_001256317.1:c.1208C>T NP_001243246.1:p.Pro403Leu
NM_024022.2:c.1211C>T NP_076927.1:p.Pro404Leu
NM_032404.2:c.830C>T NP_115780.1:p.Pro277Leu
NR_046020.1:n.2167C>T
NM_001256317.2:c.1208C>T NP_001243246.1:p.Pro403Leu
NM_024022.3:c.1211C>T NP_076927.1:p.Pro404Leu
NM_001256317.3:c.1208C>T MANE Select NP_001243246.1:p.Pro403Leu
NM_024022.4:c.1211C>T NP_076927.1:p.Pro404Leu
NM_032404.3:c.830C>T NP_115780.1:p.Pro277Leu
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