Canonical Allele Identifier: CA137690

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 46104
• ClinVar RCV Id: RCV000039341 ; RCV001140597 ; RCV001559611
• dbSNP Id: rs201018751
• ExAC: 21:43795829 A / G
• gnomAD v2: 21-43795829-A-G
• gnomAD v3: 21-42375720-A-G
• gnomAD v4: 21-42375720-A-G
• MyVariant Identifiers: chr21:g.43795829A>G (hg19) ; chr21:g.42375720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42375720A>G , CM000683.2:g.42375720A>G	GRCh38
NC_000021.8:g.43795829A>G , CM000683.1:g.43795829A>G	GRCh37
NC_000021.7:g.42668898A>G	NCBI36
NG_011629.1:g.25372T>C
NG_011629.2:g.25372T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.1343T>C	ENSP00000411013.3:p.Met448Thr
ENST00000644384.2:c.1340T>C MANE Select	ENSP00000494414.1:p.Met447Thr
ENST00000652415.1:c.1340T>C	ENSP00000498756.1:p.Met447Thr
ENST00000291532.7:c.1343T>C	ENSP00000291532.3:p.Met448Thr
ENST00000398405.5:c.1334T>C	ENSP00000381442.1:p.Met445Thr
ENST00000433957.6:c.1340T>C	ENSP00000411013.2:p.Met447Thr
ENST00000474596.5:n.1211T>C
ENST00000476848.5:n.2075T>C
ENST00000482761.1:n.1630T>C
NM_001256317.1:c.1340T>C	NP_001243246.1:p.Met447Thr
NM_024022.2:c.1343T>C	NP_076927.1:p.Met448Thr
NM_032404.2:c.962T>C	NP_115780.1:p.Met321Thr
NR_046020.1:n.2299T>C
NM_001256317.2:c.1340T>C	NP_001243246.1:p.Met447Thr
NM_024022.3:c.1343T>C	NP_076927.1:p.Met448Thr
NM_001256317.3:c.1340T>C MANE Select	NP_001243246.1:p.Met447Thr
NM_024022.4:c.1343T>C	NP_076927.1:p.Met448Thr
NM_032404.3:c.962T>C	NP_115780.1:p.Met321Thr