Canonical Allele Identifier: CA512423114

Gene: TMPRSS3

Linked Data

• MyVariant Identifiers: chr21:g.43802310C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382201C>G , CM000683.2:g.42382201C>G	GRCh38
NC_000021.8:g.43802310C>G , CM000683.1:g.43802310C>G	GRCh37
NC_000021.7:g.42675379C>G	NCBI36
NG_011629.1:g.18891G>C
NG_011629.2:g.18891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.816G>C	ENSP00000411013.3:p.Val272=
ENST00000644384.2:c.816G>C MANE Select	ENSP00000494414.1:p.Val272=
ENST00000652415.1:c.816G>C	ENSP00000498756.1:p.Val272=
ENST00000291532.7:c.816G>C	ENSP00000291532.3:p.Val272=
ENST00000398397.3:c.816G>C	ENSP00000381434.3:p.Val272=
ENST00000398405.5:c.810G>C	ENSP00000381442.1:p.Val270=
ENST00000433957.6:c.816G>C	ENSP00000411013.2:p.Val272=
ENST00000474596.5:n.684G>C
ENST00000476848.5:n.1551G>C
ENST00000478680.1:n.93G>C
ENST00000482761.1:n.1103G>C
NM_001256317.1:c.816G>C	NP_001243246.1:p.Val272=
NM_024022.2:c.816G>C	NP_076927.1:p.Val272=
NM_032404.2:c.435G>C	NP_115780.1:p.Val145=
NM_032405.1:c.816G>C	NP_115781.1:p.Val272=
NR_046020.1:n.1772G>C
NM_001256317.2:c.816G>C	NP_001243246.1:p.Val272=
NM_024022.3:c.816G>C	NP_076927.1:p.Val272=
NM_032405.2:c.816G>C	NP_115781.1:p.Val272=
NM_001256317.3:c.816G>C MANE Select	NP_001243246.1:p.Val272=
NM_024022.4:c.816G>C	NP_076927.1:p.Val272=
NM_032404.3:c.435G>C	NP_115780.1:p.Val145=