Canonical Allele Identifier: CA749544763

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs1340569461
• gnomAD v4: 21-42381923-C-A
• MyVariant Identifiers: chr21:g.43802032C>A (hg19) ; chr21:g.42381923C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42381923C>A , CM000683.2:g.42381923C>A	GRCh38
NC_000021.8:g.43802032C>A , CM000683.1:g.43802032C>A	GRCh37
NC_000021.7:g.42675101C>A	NCBI36
NG_011629.1:g.19169G>T
NG_011629.2:g.19169G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952+142G>T	ENSP00000411013.3:n.952+142G>T
ENST00000644384.2:c.952+142G>T MANE Select	ENSP00000494414.1:n.952+142G>T
ENST00000652415.1:c.952+142G>T	ENSP00000498756.1:n.952+142G>T
ENST00000291532.7:c.952+142G>T	ENSP00000291532.3:n.952+142G>T
ENST00000398397.3:c.*59G>T	ENSP00000381434.3:n.*59G>T
ENST00000398405.5:c.946+142G>T	ENSP00000381442.1:n.946+142G>T
ENST00000433957.6:c.952+142G>T	ENSP00000411013.2:n.952+142G>T
ENST00000474596.5:n.820+142G>T
ENST00000476848.5:n.1687+142G>T
ENST00000478680.1:n.371G>T
ENST00000482761.1:n.1239+142G>T
NM_001256317.1:c.952+142G>T	NP_001243246.1:n.952+142G>T
NM_024022.2:c.952+142G>T	NP_076927.1:n.952+142G>T
NM_032404.2:c.571+142G>T	NP_115780.1:n.571+142G>T
NM_032405.1:c.*59G>T	NP_115781.1:n.*59G>T
NR_046020.1:n.1908+142G>T
NM_001256317.2:c.952+142G>T	NP_001243246.1:n.952+142G>T
NM_024022.3:c.952+142G>T	NP_076927.1:n.952+142G>T
NM_032405.2:c.*59G>T	NP_115781.1:n.*59G>T
NM_001256317.3:c.952+142G>T MANE Select	NP_001243246.1:n.952+142G>T
NM_024022.4:c.952+142G>T	NP_076927.1:n.952+142G>T
NM_032404.3:c.571+142G>T	NP_115780.1:n.571+142G>T