Canonical Allele Identifier: CA512423096
Gene: TMPRSS3 HGNC NCBI

Linked Data

dbSNP Id: rs768961609
MyVariant Identifiers: chr21:g.43802294A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42382185A>G , CM000683.2:g.42382185A>G GRCh38
NC_000021.8:g.43802294A>G , CM000683.1:g.43802294A>G GRCh37
NC_000021.7:g.42675363A>G NCBI36
NG_011629.1:g.18907T>C
NG_011629.2:g.18907T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433957.7:c.832T>C ENSP00000411013.3:p.Leu278=
ENST00000644384.2:c.832T>C MANE Select ENSP00000494414.1:p.Leu278=
ENST00000652415.1:c.832T>C ENSP00000498756.1:p.Leu278=
ENST00000291532.7:c.832T>C ENSP00000291532.3:p.Leu278=
ENST00000398397.3:c.832T>C ENSP00000381434.3:p.Leu278=
ENST00000398405.5:c.826T>C ENSP00000381442.1:p.Leu276=
ENST00000433957.6:c.832T>C ENSP00000411013.2:p.Leu278=
ENST00000474596.5:n.700T>C
ENST00000476848.5:n.1567T>C
ENST00000478680.1:n.109T>C
ENST00000482761.1:n.1119T>C
NM_001256317.1:c.832T>C NP_001243246.1:p.Leu278=
NM_024022.2:c.832T>C NP_076927.1:p.Leu278=
NM_032404.2:c.451T>C NP_115780.1:p.Leu151=
NM_032405.1:c.832T>C NP_115781.1:p.Leu278=
NR_046020.1:n.1788T>C
NM_001256317.2:c.832T>C NP_001243246.1:p.Leu278=
NM_024022.3:c.832T>C NP_076927.1:p.Leu278=
NM_032405.2:c.832T>C NP_115781.1:p.Leu278=
NM_001256317.3:c.832T>C MANE Select NP_001243246.1:p.Leu278=
NM_024022.4:c.832T>C NP_076927.1:p.Leu278=
NM_032404.3:c.451T>C NP_115780.1:p.Leu151=