Canonical Allele Identifier: CA410375914

Gene: TMPRSS3

Linked Data

• gnomAD v4: 21-42389975-C-A
• COSMIC: COSM4002040 ; COSM4002041 ; COSM4002042
• MyVariant Identifiers: chr21:g.43810084C>A (hg19) ; chr21:g.42389975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42389975C>A , CM000683.2:g.42389975C>A	GRCh38
NC_000021.8:g.43810084C>A , CM000683.1:g.43810084C>A	GRCh37
NC_000021.7:g.42683153C>A	NCBI36
NG_011629.1:g.11117G>T
NG_011629.2:g.11117G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.157G>T	ENSP00000411013.3:p.Val53Phe
ENST00000644384.2:c.157G>T MANE Select	ENSP00000494414.1:p.Val53Phe
ENST00000652415.1:c.157G>T	ENSP00000498756.1:p.Val53Phe
ENST00000291532.7:c.157G>T	ENSP00000291532.3:p.Val53Phe
ENST00000398397.3:c.157G>T	ENSP00000381434.3:p.Val53Phe
ENST00000398405.5:c.151G>T	ENSP00000381442.1:p.Val51Phe
ENST00000433957.6:c.157G>T	ENSP00000411013.2:p.Val53Phe
ENST00000482761.1:n.444G>T
NM_001256317.1:c.157G>T	NP_001243246.1:p.Val53Phe
NM_024022.2:c.157G>T	NP_076927.1:p.Val53Phe
NM_032405.1:c.157G>T	NP_115781.1:p.Val53Phe
NR_046020.1:n.1113G>T
NM_001256317.2:c.157G>T	NP_001243246.1:p.Val53Phe
NM_024022.3:c.157G>T	NP_076927.1:p.Val53Phe
NM_032405.2:c.157G>T	NP_115781.1:p.Val53Phe
NM_001256317.3:c.157G>T MANE Select	NP_001243246.1:p.Val53Phe
NM_024022.4:c.157G>T	NP_076927.1:p.Val53Phe