Canonical Allele Identifier: CA10042408

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs770987312
• ExAC: 21:43802088 C / G
• gnomAD v2: 21-43802088-C-G
• gnomAD v3: 21-42381979-C-G
• gnomAD v4: 21-42381979-C-G
• MyVariant Identifiers: chr21:g.43802088C>G (hg19) ; chr21:g.42381979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42381979C>G , CM000683.2:g.42381979C>G	GRCh38
NC_000021.8:g.43802088C>G , CM000683.1:g.43802088C>G	GRCh37
NC_000021.7:g.42675157C>G	NCBI36
NG_011629.1:g.19113G>C
NG_011629.2:g.19113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952+86G>C	ENSP00000411013.3:n.952+86G>C
ENST00000644384.2:c.952+86G>C MANE Select	ENSP00000494414.1:n.952+86G>C
ENST00000652415.1:c.952+86G>C	ENSP00000498756.1:n.952+86G>C
ENST00000291532.7:c.952+86G>C	ENSP00000291532.3:n.952+86G>C
ENST00000398397.3:c.*3G>C	ENSP00000381434.3:n.*3G>C
ENST00000398405.5:c.946+86G>C	ENSP00000381442.1:n.946+86G>C
ENST00000433957.6:c.952+86G>C	ENSP00000411013.2:n.952+86G>C
ENST00000474596.5:n.820+86G>C
ENST00000476848.5:n.1687+86G>C
ENST00000478680.1:n.315G>C
ENST00000482761.1:n.1239+86G>C
NM_001256317.1:c.952+86G>C	NP_001243246.1:n.952+86G>C
NM_024022.2:c.952+86G>C	NP_076927.1:n.952+86G>C
NM_032404.2:c.571+86G>C	NP_115780.1:n.571+86G>C
NM_032405.1:c.*3G>C	NP_115781.1:n.*3G>C
NR_046020.1:n.1908+86G>C
NM_001256317.2:c.952+86G>C	NP_001243246.1:n.952+86G>C
NM_024022.3:c.952+86G>C	NP_076927.1:n.952+86G>C
NM_032405.2:c.*3G>C	NP_115781.1:n.*3G>C
NM_001256317.3:c.952+86G>C MANE Select	NP_001243246.1:n.952+86G>C
NM_024022.4:c.952+86G>C	NP_076927.1:n.952+86G>C
NM_032404.3:c.571+86G>C	NP_115780.1:n.571+86G>C