Canonical Allele Identifier: CA10652993

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 340041
• ClinVar RCV Id: RCV000396339
• dbSNP Id: rs886057090
• gnomAD v2: 21-43792179-C-T
• gnomAD v3: 21-42372070-C-T
• gnomAD v4: 21-42372070-C-T
• MyVariant Identifiers: chr21:g.43792179C>T (hg19) ; chr21:g.42372070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42372070C>T , CM000683.2:g.42372070C>T	GRCh38
NC_000021.8:g.43792179C>T , CM000683.1:g.43792179C>T	GRCh37
NC_000021.7:g.42665248C>T	NCBI36
NG_011629.1:g.29022G>A
NG_011629.2:g.29022G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.*692G>A	ENSP00000411013.3:n.*692G>A
ENST00000644384.2:c.*692G>A MANE Select	ENSP00000494414.1:n.*692G>A
ENST00000652415.1:c.*692G>A	ENSP00000498756.1:n.*692G>A
ENST00000291532.7:c.*692G>A	ENSP00000291532.3:n.*692G>A
ENST00000398405.5:c.*692G>A	ENSP00000381442.1:n.*692G>A
ENST00000433957.6:c.*692G>A	ENSP00000411013.2:n.*692G>A
ENST00000474596.5:n.1925G>A
ENST00000476848.5:n.2789G>A
ENST00000482761.1:n.2344G>A
NM_001256317.1:c.*692G>A	NP_001243246.1:n.*692G>A
NM_024022.2:c.*692G>A	NP_076927.1:n.*692G>A
NM_032404.2:c.*692G>A	NP_115780.1:n.*692G>A
NR_046020.1:n.3013G>A
NM_001256317.2:c.*692G>A	NP_001243246.1:n.*692G>A
NM_024022.3:c.*692G>A	NP_076927.1:n.*692G>A
NM_001256317.3:c.*692G>A MANE Select	NP_001243246.1:n.*692G>A
NM_024022.4:c.*692G>A	NP_076927.1:n.*692G>A
NM_032404.3:c.*692G>A	NP_115780.1:n.*692G>A