Canonical Allele Identifier: CA638062470

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2996536
• ClinVar RCV Id: RCV003858671
• dbSNP Id: rs1247866771
• gnomAD v2: 21-43809025-G-T
• gnomAD v3: 21-42388916-G-T
• gnomAD v4: 21-42388916-G-T
• MyVariant Identifiers: chr21:g.43809025G>T (hg19) ; chr21:g.42388916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388916G>T , CM000683.2:g.42388916G>T	GRCh38
NC_000021.8:g.43809025G>T , CM000683.1:g.43809025G>T	GRCh37
NC_000021.7:g.42682094G>T	NCBI36
NG_011629.1:g.12176C>A
NG_011629.2:g.12176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.322+13C>A	ENSP00000411013.3:n.322+13C>A
ENST00000644384.2:c.322+13C>A MANE Select	ENSP00000494414.1:n.322+13C>A
ENST00000652415.1:c.322+13C>A	ENSP00000498756.1:n.322+13C>A
ENST00000291532.7:c.322+13C>A	ENSP00000291532.3:n.322+13C>A
ENST00000398397.3:c.322+13C>A	ENSP00000381434.3:n.322+13C>A
ENST00000398405.5:c.316+13C>A	ENSP00000381442.1:n.316+13C>A
ENST00000433957.6:c.322+13C>A	ENSP00000411013.2:n.322+13C>A
ENST00000474596.5:n.190+13C>A
ENST00000482761.1:n.609+13C>A
NM_001256317.1:c.322+13C>A	NP_001243246.1:n.322+13C>A
NM_024022.2:c.322+13C>A	NP_076927.1:n.322+13C>A
NM_032404.2:c.-60+13C>A	NP_115780.1:n.-60+13C>A
NM_032405.1:c.322+13C>A	NP_115781.1:n.322+13C>A
NR_046020.1:n.1278+13C>A
NM_001256317.2:c.322+13C>A	NP_001243246.1:n.322+13C>A
NM_024022.3:c.322+13C>A	NP_076927.1:n.322+13C>A
NM_032405.2:c.322+13C>A	NP_115781.1:n.322+13C>A
NM_001256317.3:c.322+13C>A MANE Select	NP_001243246.1:n.322+13C>A
NM_024022.4:c.322+13C>A	NP_076927.1:n.322+13C>A
NM_032404.3:c.-60+13C>A	NP_115780.1:n.-60+13C>A