Canonical Allele Identifier: CA2577612324

Gene: TMPRSS3

Linked Data

• gnomAD v4: 21-42382012-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382012A>G , CM000683.2:g.42382012A>G	GRCh38
NC_000021.8:g.43802121A>G , CM000683.1:g.43802121A>G	GRCh37
NC_000021.7:g.42675190A>G	NCBI36
NG_011629.1:g.19080T>C
NG_011629.2:g.19080T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952+53T>C	ENSP00000411013.3:n.952+53T>C
ENST00000644384.2:c.952+53T>C MANE Select	ENSP00000494414.1:n.952+53T>C
ENST00000652415.1:c.952+53T>C	ENSP00000498756.1:n.952+53T>C
ENST00000291532.7:c.952+53T>C	ENSP00000291532.3:n.952+53T>C
ENST00000398397.3:c.1005T>C	ENSP00000381434.3:p.Asp335=
ENST00000398405.5:c.946+53T>C	ENSP00000381442.1:n.946+53T>C
ENST00000433957.6:c.952+53T>C	ENSP00000411013.2:n.952+53T>C
ENST00000474596.5:n.820+53T>C
ENST00000476848.5:n.1687+53T>C
ENST00000478680.1:n.282T>C
ENST00000482761.1:n.1239+53T>C
NM_001256317.1:c.952+53T>C	NP_001243246.1:n.952+53T>C
NM_024022.2:c.952+53T>C	NP_076927.1:n.952+53T>C
NM_032404.2:c.571+53T>C	NP_115780.1:n.571+53T>C
NM_032405.1:c.1005T>C	NP_115781.1:p.Asp335=
NR_046020.1:n.1908+53T>C
NM_001256317.2:c.952+53T>C	NP_001243246.1:n.952+53T>C
NM_024022.3:c.952+53T>C	NP_076927.1:n.952+53T>C
NM_032405.2:c.1005T>C	NP_115781.1:p.Asp335=
NM_001256317.3:c.952+53T>C MANE Select	NP_001243246.1:n.952+53T>C
NM_024022.4:c.952+53T>C	NP_076927.1:n.952+53T>C
NM_032404.3:c.571+53T>C	NP_115780.1:n.571+53T>C