Canonical Allele Identifier: CA10042420

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs752399941
• ExAC: 21:43802174 C / T
• gnomAD v2: 21-43802174-C-T
• gnomAD v4: 21-42382065-C-T
• MyVariant Identifiers: chr21:g.43802174C>T (hg19) ; chr21:g.42382065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382065C>T , CM000683.2:g.42382065C>T	GRCh38
NC_000021.8:g.43802174C>T , CM000683.1:g.43802174C>T	GRCh37
NC_000021.7:g.42675243C>T	NCBI36
NG_011629.1:g.19027G>A
NG_011629.2:g.19027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.952G>A	ENSP00000411013.3:p.Glu318Lys
ENST00000644384.2:c.952G>A MANE Select	ENSP00000494414.1:p.Glu318Lys
ENST00000652415.1:c.952G>A	ENSP00000498756.1:p.Glu318Lys
ENST00000291532.7:c.952G>A	ENSP00000291532.3:p.Glu318Lys
ENST00000398397.3:c.952G>A	ENSP00000381434.3:p.Gly318Ser
ENST00000398405.5:c.946G>A	ENSP00000381442.1:p.Glu316Lys
ENST00000433957.6:c.952G>A	ENSP00000411013.2:p.Glu318Lys
ENST00000474596.5:n.820G>A
ENST00000476848.5:n.1687G>A
ENST00000478680.1:n.229G>A
ENST00000482761.1:n.1239G>A
NM_001256317.1:c.952G>A	NP_001243246.1:p.Glu318Lys
NM_024022.2:c.952G>A	NP_076927.1:p.Glu318Lys
NM_032404.2:c.571G>A	NP_115780.1:p.Glu191Lys
NM_032405.1:c.952G>A	NP_115781.1:p.Gly318Ser
NR_046020.1:n.1908G>A
NM_001256317.2:c.952G>A	NP_001243246.1:p.Glu318Lys
NM_024022.3:c.952G>A	NP_076927.1:p.Glu318Lys
NM_032405.2:c.952G>A	NP_115781.1:p.Gly318Ser
NM_001256317.3:c.952G>A MANE Select	NP_001243246.1:p.Glu318Lys
NM_024022.4:c.952G>A	NP_076927.1:p.Glu318Lys
NM_032404.3:c.571G>A	NP_115780.1:p.Glu191Lys