Canonical Allele Identifier: CA512423509

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2871626
• ClinVar RCV Id: RCV003698595
• dbSNP Id: rs2052616687
• gnomAD v4: 21-42385411-C-T
• MyVariant Identifiers: chr21:g.43805520C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385411C>T , CM000683.2:g.42385411C>T	GRCh38
NC_000021.8:g.43805520C>T , CM000683.1:g.43805520C>T	GRCh37
NC_000021.7:g.42678589C>T	NCBI36
NG_011629.1:g.15681G>A
NG_011629.2:g.15681G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.570G>A	ENSP00000411013.3:p.Val190=
ENST00000644384.2:c.570G>A MANE Select	ENSP00000494414.1:p.Val190=
ENST00000652415.1:c.570G>A	ENSP00000498756.1:p.Val190=
ENST00000291532.7:c.570G>A	ENSP00000291532.3:p.Val190=
ENST00000398397.3:c.570G>A	ENSP00000381434.3:p.Val190=
ENST00000398405.5:c.564G>A	ENSP00000381442.1:p.Val188=
ENST00000433957.6:c.570G>A	ENSP00000411013.2:p.Val190=
ENST00000474596.5:n.438G>A
ENST00000482761.1:n.857G>A
NM_001256317.1:c.570G>A	NP_001243246.1:p.Val190=
NM_024022.2:c.570G>A	NP_076927.1:p.Val190=
NM_032404.2:c.189G>A	NP_115780.1:p.Val63=
NM_032405.1:c.570G>A	NP_115781.1:p.Val190=
NR_046020.1:n.1526G>A
NM_001256317.2:c.570G>A	NP_001243246.1:p.Val190=
NM_024022.3:c.570G>A	NP_076927.1:p.Val190=
NM_032405.2:c.570G>A	NP_115781.1:p.Val190=
NM_001256317.3:c.570G>A MANE Select	NP_001243246.1:p.Val190=
NM_024022.4:c.570G>A	NP_076927.1:p.Val190=
NM_032404.3:c.189G>A	NP_115780.1:p.Val63=