Canonical Allele Identifier: CA10042663

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2901653
• ClinVar RCV Id: RCV003731385
• dbSNP Id: rs781683233
• ExAC: 21:43808644 T / C
• gnomAD v2: 21-43808644-T-C
• gnomAD v3: 21-42388535-T-C
• gnomAD v4: 21-42388535-T-C
• MyVariant Identifiers: chr21:g.43808644T>C (hg19) ; chr21:g.42388535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388535T>C , CM000683.2:g.42388535T>C	GRCh38
NC_000021.8:g.43808644T>C , CM000683.1:g.43808644T>C	GRCh37
NC_000021.7:g.42681713T>C	NCBI36
NG_011629.1:g.12557A>G
NG_011629.2:g.12557A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.323-9A>G	ENSP00000411013.3:n.323-9A>G
ENST00000644384.2:c.323-9A>G MANE Select	ENSP00000494414.1:n.323-9A>G
ENST00000652415.1:c.323-9A>G	ENSP00000498756.1:n.323-9A>G
ENST00000291532.7:c.323-9A>G	ENSP00000291532.3:n.323-9A>G
ENST00000398397.3:c.323-9A>G	ENSP00000381434.3:n.323-9A>G
ENST00000398405.5:c.317-9A>G	ENSP00000381442.1:n.317-9A>G
ENST00000433957.6:c.323-9A>G	ENSP00000411013.2:n.323-9A>G
ENST00000474596.5:n.191-9A>G
ENST00000482761.1:n.610-9A>G
NM_001256317.1:c.323-9A>G	NP_001243246.1:n.323-9A>G
NM_024022.2:c.323-9A>G	NP_076927.1:n.323-9A>G
NM_032404.2:c.-59-9A>G	NP_115780.1:n.-59-9A>G
NM_032405.1:c.323-9A>G	NP_115781.1:n.323-9A>G
NR_046020.1:n.1279-9A>G
NM_001256317.2:c.323-9A>G	NP_001243246.1:n.323-9A>G
NM_024022.3:c.323-9A>G	NP_076927.1:n.323-9A>G
NM_032405.2:c.323-9A>G	NP_115781.1:n.323-9A>G
NM_001256317.3:c.323-9A>G MANE Select	NP_001243246.1:n.323-9A>G
NM_024022.4:c.323-9A>G	NP_076927.1:n.323-9A>G
NM_032404.3:c.-59-9A>G	NP_115780.1:n.-59-9A>G