Canonical Allele Identifier: CA410376055

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 2871965
• ClinVar RCV Id: RCV003705774
• MyVariant Identifiers: chr21:g.43815431A>G (hg19) ; chr21:g.42395322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42395322A>G , CM000683.2:g.42395322A>G	GRCh38
NC_000021.8:g.43815431A>G , CM000683.1:g.43815431A>G	GRCh37
NC_000021.7:g.42688500A>G	NCBI36
NG_011629.1:g.5770T>C
NG_011629.2:g.5770T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.94+2T>C	ENSP00000411013.3:n.94+2T>C
ENST00000644384.2:c.94+2T>C MANE Select	ENSP00000494414.1:n.94+2T>C
ENST00000652415.1:c.94+2T>C	ENSP00000498756.1:n.94+2T>C
ENST00000291532.7:c.94+2T>C	ENSP00000291532.3:n.94+2T>C
ENST00000398397.3:c.94+2T>C	ENSP00000381434.3:n.94+2T>C
ENST00000398405.5:c.94+2T>C	ENSP00000381442.1:n.94+2T>C
ENST00000433957.6:c.94+2T>C	ENSP00000411013.2:n.94+2T>C
NM_001256317.1:c.94+2T>C	NP_001243246.1:n.94+2T>C
NM_024022.2:c.94+2T>C	NP_076927.1:n.94+2T>C
NM_032405.1:c.94+2T>C	NP_115781.1:n.94+2T>C
NR_046020.1:n.1050+2T>C
NM_001256317.2:c.94+2T>C	NP_001243246.1:n.94+2T>C
NM_024022.3:c.94+2T>C	NP_076927.1:n.94+2T>C
NM_032405.2:c.94+2T>C	NP_115781.1:n.94+2T>C
NM_001256317.3:c.94+2T>C MANE Select	NP_001243246.1:n.94+2T>C
NM_024022.4:c.94+2T>C	NP_076927.1:n.94+2T>C