Canonical Allele Identifier: CA261812

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 46113
• ClinVar RCV Id: RCV000039350 ; RCV001291485 ; RCV001328013 ; RCV001375193 ; RCV001558268 ; RCV001781358
• dbSNP Id: rs374793617
• ExAC: 21:43808641 C / T
• gnomAD v2: 21-43808641-C-T
• gnomAD v3: 21-42388532-C-T
• gnomAD v4: 21-42388532-C-T
• MyVariant Identifiers: chr21:g.43808641C>T (hg19) ; chr21:g.42388532C>T (hg38)
• PubMed: PMID:11137999

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388532C>T , CM000683.2:g.42388532C>T	GRCh38
NC_000021.8:g.43808641C>T , CM000683.1:g.43808641C>T	GRCh37
NC_000021.7:g.42681710C>T	NCBI36
NG_011629.1:g.12560G>A
NG_011629.2:g.12560G>A

Transcript Alleles

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