Canonical Allele Identifier: CA2577612323

Gene: TMPRSS3

Linked Data

• gnomAD v4: 21-42382009-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382009C>T , CM000683.2:g.42382009C>T	GRCh38
NC_000021.8:g.43802118C>T , CM000683.1:g.43802118C>T	GRCh37
NC_000021.7:g.42675187C>T	NCBI36
NG_011629.1:g.19083G>A
NG_011629.2:g.19083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952+56G>A	ENSP00000411013.3:n.952+56G>A
ENST00000644384.2:c.952+56G>A MANE Select	ENSP00000494414.1:n.952+56G>A
ENST00000652415.1:c.952+56G>A	ENSP00000498756.1:n.952+56G>A
ENST00000291532.7:c.952+56G>A	ENSP00000291532.3:n.952+56G>A
ENST00000398397.3:c.1008G>A	ENSP00000381434.3:p.Leu336=
ENST00000398405.5:c.946+56G>A	ENSP00000381442.1:n.946+56G>A
ENST00000433957.6:c.952+56G>A	ENSP00000411013.2:n.952+56G>A
ENST00000474596.5:n.820+56G>A
ENST00000476848.5:n.1687+56G>A
ENST00000478680.1:n.285G>A
ENST00000482761.1:n.1239+56G>A
NM_001256317.1:c.952+56G>A	NP_001243246.1:n.952+56G>A
NM_024022.2:c.952+56G>A	NP_076927.1:n.952+56G>A
NM_032404.2:c.571+56G>A	NP_115780.1:n.571+56G>A
NM_032405.1:c.1008G>A	NP_115781.1:p.Leu336=
NR_046020.1:n.1908+56G>A
NM_001256317.2:c.952+56G>A	NP_001243246.1:n.952+56G>A
NM_024022.3:c.952+56G>A	NP_076927.1:n.952+56G>A
NM_032405.2:c.1008G>A	NP_115781.1:p.Leu336=
NM_001256317.3:c.952+56G>A MANE Select	NP_001243246.1:n.952+56G>A
NM_024022.4:c.952+56G>A	NP_076927.1:n.952+56G>A
NM_032404.3:c.571+56G>A	NP_115780.1:n.571+56G>A