Canonical Allele Identifier: CA410374812
Gene: TMPRSS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.43805536T>A (hg19) chr21:g.42385427T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42385427T>A , CM000683.2:g.42385427T>A GRCh38
NC_000021.8:g.43805536T>A , CM000683.1:g.43805536T>A GRCh37
NC_000021.7:g.42678605T>A NCBI36
NG_011629.1:g.15665A>T
NG_011629.2:g.15665A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.554A>T ENSP00000411013.3:p.His185Leu
ENST00000644384.2:c.554A>T MANE Select ENSP00000494414.1:p.His185Leu
ENST00000652415.1:c.554A>T ENSP00000498756.1:p.His185Leu
ENST00000291532.7:c.554A>T ENSP00000291532.3:p.His185Leu
ENST00000398397.3:c.554A>T ENSP00000381434.3:p.His185Leu
ENST00000398405.5:c.548A>T ENSP00000381442.1:p.His183Leu
ENST00000433957.6:c.554A>T ENSP00000411013.2:p.His185Leu
ENST00000474596.5:n.422A>T
ENST00000482761.1:n.841A>T
NM_001256317.1:c.554A>T NP_001243246.1:p.His185Leu
NM_024022.2:c.554A>T NP_076927.1:p.His185Leu
NM_032404.2:c.173A>T NP_115780.1:p.His58Leu
NM_032405.1:c.554A>T NP_115781.1:p.His185Leu
NR_046020.1:n.1510A>T
NM_001256317.2:c.554A>T NP_001243246.1:p.His185Leu
NM_024022.3:c.554A>T NP_076927.1:p.His185Leu
NM_032405.2:c.554A>T NP_115781.1:p.His185Leu
NM_001256317.3:c.554A>T MANE Select NP_001243246.1:p.His185Leu
NM_024022.4:c.554A>T NP_076927.1:p.His185Leu
NM_032404.3:c.173A>T NP_115780.1:p.His58Leu
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