Canonical Allele Identifier: CA185279

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 179855
• ClinVar RCV Id: RCV000156655 ; RCV000317265 ; RCV001850168
• dbSNP Id: rs146159479
• ExAC: 21:43809121 C / T
• gnomAD v2: 21-43809121-C-T
• gnomAD v3: 21-42389012-C-T
• gnomAD v4: 21-42389012-C-T
• MyVariant Identifiers: chr21:g.43809121C>T (hg19) ; chr21:g.42389012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42389012C>T , CM000683.2:g.42389012C>T	GRCh38
NC_000021.8:g.43809121C>T , CM000683.1:g.43809121C>T	GRCh37
NC_000021.7:g.42682190C>T	NCBI36
NG_011629.1:g.12080G>A
NG_011629.2:g.12080G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.239G>A	ENSP00000411013.3:p.Arg80His
ENST00000644384.2:c.239G>A MANE Select	ENSP00000494414.1:p.Arg80His
ENST00000652415.1:c.239G>A	ENSP00000498756.1:p.Arg80His
ENST00000291532.7:c.239G>A	ENSP00000291532.3:p.Arg80His
ENST00000398397.3:c.239G>A	ENSP00000381434.3:p.Arg80His
ENST00000398405.5:c.233G>A	ENSP00000381442.1:p.Arg78His
ENST00000433957.6:c.239G>A	ENSP00000411013.2:p.Arg80His
ENST00000474596.5:n.107G>A
ENST00000482761.1:n.526G>A
NM_001256317.1:c.239G>A	NP_001243246.1:p.Arg80His
NM_024022.2:c.239G>A	NP_076927.1:p.Arg80His
NM_032404.2:c.-143G>A	NP_115780.1:n.-143G>A
NM_032405.1:c.239G>A	NP_115781.1:p.Arg80His
NR_046020.1:n.1195G>A
NM_001256317.2:c.239G>A	NP_001243246.1:p.Arg80His
NM_024022.3:c.239G>A	NP_076927.1:p.Arg80His
NM_032405.2:c.239G>A	NP_115781.1:p.Arg80His
NM_001256317.3:c.239G>A MANE Select	NP_001243246.1:p.Arg80His
NM_024022.4:c.239G>A	NP_076927.1:p.Arg80His
NM_032404.3:c.-143G>A	NP_115780.1:n.-143G>A