Canonical Allele Identifier: CA10042594

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2907554
• ClinVar RCV Id: RCV003727190
• dbSNP Id: rs770046529
• ExAC: 21:43805539 A / G
• gnomAD v2: 21-43805539-A-G
• gnomAD v4: 21-42385430-A-G
• MyVariant Identifiers: chr21:g.43805539A>G (hg19) ; chr21:g.42385430A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385430A>G , CM000683.2:g.42385430A>G	GRCh38
NC_000021.8:g.43805539A>G , CM000683.1:g.43805539A>G	GRCh37
NC_000021.7:g.42678608A>G	NCBI36
NG_011629.1:g.15662T>C
NG_011629.2:g.15662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.551T>C	ENSP00000411013.3:p.Leu184Ser
ENST00000644384.2:c.551T>C MANE Select	ENSP00000494414.1:p.Leu184Ser
ENST00000652415.1:c.551T>C	ENSP00000498756.1:p.Leu184Ser
ENST00000291532.7:c.551T>C	ENSP00000291532.3:p.Leu184Ser
ENST00000398397.3:c.551T>C	ENSP00000381434.3:p.Leu184Ser
ENST00000398405.5:c.545T>C	ENSP00000381442.1:p.Leu182Ser
ENST00000433957.6:c.551T>C	ENSP00000411013.2:p.Leu184Ser
ENST00000474596.5:n.419T>C
ENST00000482761.1:n.838T>C
NM_001256317.1:c.551T>C	NP_001243246.1:p.Leu184Ser
NM_024022.2:c.551T>C	NP_076927.1:p.Leu184Ser
NM_032404.2:c.170T>C	NP_115780.1:p.Leu57Ser
NM_032405.1:c.551T>C	NP_115781.1:p.Leu184Ser
NR_046020.1:n.1507T>C
NM_001256317.2:c.551T>C	NP_001243246.1:p.Leu184Ser
NM_024022.3:c.551T>C	NP_076927.1:p.Leu184Ser
NM_032405.2:c.551T>C	NP_115781.1:p.Leu184Ser
NM_001256317.3:c.551T>C MANE Select	NP_001243246.1:p.Leu184Ser
NM_024022.4:c.551T>C	NP_076927.1:p.Leu184Ser
NM_032404.3:c.170T>C	NP_115780.1:p.Leu57Ser