Canonical Allele Identifier: CA512423108

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2794218
• ClinVar RCV Id: RCV003672703
• dbSNP Id: rs1454143143
• gnomAD v2: 21-43802304-T-C
• gnomAD v3: 21-42382195-T-C
• gnomAD v4: 21-42382195-T-C
• MyVariant Identifiers: chr21:g.43802304T>C (hg19) ; chr21:g.42382195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382195T>C , CM000683.2:g.42382195T>C	GRCh38
NC_000021.8:g.43802304T>C , CM000683.1:g.43802304T>C	GRCh37
NC_000021.7:g.42675373T>C	NCBI36
NG_011629.1:g.18897A>G
NG_011629.2:g.18897A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.822A>G	ENSP00000411013.3:p.Leu274=
ENST00000644384.2:c.822A>G MANE Select	ENSP00000494414.1:p.Leu274=
ENST00000652415.1:c.822A>G	ENSP00000498756.1:p.Leu274=
ENST00000291532.7:c.822A>G	ENSP00000291532.3:p.Leu274=
ENST00000398397.3:c.822A>G	ENSP00000381434.3:p.Leu274=
ENST00000398405.5:c.816A>G	ENSP00000381442.1:p.Leu272=
ENST00000433957.6:c.822A>G	ENSP00000411013.2:p.Leu274=
ENST00000474596.5:n.690A>G
ENST00000476848.5:n.1557A>G
ENST00000478680.1:n.99A>G
ENST00000482761.1:n.1109A>G
NM_001256317.1:c.822A>G	NP_001243246.1:p.Leu274=
NM_024022.2:c.822A>G	NP_076927.1:p.Leu274=
NM_032404.2:c.441A>G	NP_115780.1:p.Leu147=
NM_032405.1:c.822A>G	NP_115781.1:p.Leu274=
NR_046020.1:n.1778A>G
NM_001256317.2:c.822A>G	NP_001243246.1:p.Leu274=
NM_024022.3:c.822A>G	NP_076927.1:p.Leu274=
NM_032405.2:c.822A>G	NP_115781.1:p.Leu274=
NM_001256317.3:c.822A>G MANE Select	NP_001243246.1:p.Leu274=
NM_024022.4:c.822A>G	NP_076927.1:p.Leu274=
NM_032404.3:c.441A>G	NP_115780.1:p.Leu147=