Canonical Allele Identifier: CA10042682

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 761719
• ClinVar RCV Id: RCV000939788 ; RCV003960538
• dbSNP Id: rs200171775
• ExAC: 21:43809028 A / G
• gnomAD v2: 21-43809028-A-G
• gnomAD v3: 21-42388919-A-G
• gnomAD v4: 21-42388919-A-G
• MyVariant Identifiers: chr21:g.43809028A>G (hg19) ; chr21:g.42388919A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42388919A>G , CM000683.2:g.42388919A>G	GRCh38
NC_000021.8:g.43809028A>G , CM000683.1:g.43809028A>G	GRCh37
NC_000021.7:g.42682097A>G	NCBI36
NG_011629.1:g.12173T>C
NG_011629.2:g.12173T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.322+10T>C	ENSP00000411013.3:n.322+10T>C
ENST00000644384.2:c.322+10T>C MANE Select	ENSP00000494414.1:n.322+10T>C
ENST00000652415.1:c.322+10T>C	ENSP00000498756.1:n.322+10T>C
ENST00000291532.7:c.322+10T>C	ENSP00000291532.3:n.322+10T>C
ENST00000398397.3:c.322+10T>C	ENSP00000381434.3:n.322+10T>C
ENST00000398405.5:c.316+10T>C	ENSP00000381442.1:n.316+10T>C
ENST00000433957.6:c.322+10T>C	ENSP00000411013.2:n.322+10T>C
ENST00000474596.5:n.190+10T>C
ENST00000482761.1:n.609+10T>C
NM_001256317.1:c.322+10T>C	NP_001243246.1:n.322+10T>C
NM_024022.2:c.322+10T>C	NP_076927.1:n.322+10T>C
NM_032404.2:c.-60+10T>C	NP_115780.1:n.-60+10T>C
NM_032405.1:c.322+10T>C	NP_115781.1:n.322+10T>C
NR_046020.1:n.1278+10T>C
NM_001256317.2:c.322+10T>C	NP_001243246.1:n.322+10T>C
NM_024022.3:c.322+10T>C	NP_076927.1:n.322+10T>C
NM_032405.2:c.322+10T>C	NP_115781.1:n.322+10T>C
NM_001256317.3:c.322+10T>C MANE Select	NP_001243246.1:n.322+10T>C
NM_024022.4:c.322+10T>C	NP_076927.1:n.322+10T>C
NM_032404.3:c.-60+10T>C	NP_115780.1:n.-60+10T>C