Canonical Allele Identifier: CA410372589

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs1301140693
• gnomAD v2: 21-43802258-T-A
• gnomAD v4: 21-42382149-T-A
• MyVariant Identifiers: chr21:g.43802258T>A (hg19) ; chr21:g.42382149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382149T>A , CM000683.2:g.42382149T>A	GRCh38
NC_000021.8:g.43802258T>A , CM000683.1:g.43802258T>A	GRCh37
NC_000021.7:g.42675327T>A	NCBI36
NG_011629.1:g.18943A>T
NG_011629.2:g.18943A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.868A>T	ENSP00000411013.3:p.Ile290Phe
ENST00000644384.2:c.868A>T MANE Select	ENSP00000494414.1:p.Ile290Phe
ENST00000652415.1:c.868A>T	ENSP00000498756.1:p.Ile290Phe
ENST00000291532.7:c.868A>T	ENSP00000291532.3:p.Ile290Phe
ENST00000398397.3:c.868A>T	ENSP00000381434.3:p.Ile290Phe
ENST00000398405.5:c.862A>T	ENSP00000381442.1:p.Ile288Phe
ENST00000433957.6:c.868A>T	ENSP00000411013.2:p.Ile290Phe
ENST00000474596.5:n.736A>T
ENST00000476848.5:n.1603A>T
ENST00000478680.1:n.145A>T
ENST00000482761.1:n.1155A>T
NM_001256317.1:c.868A>T	NP_001243246.1:p.Ile290Phe
NM_024022.2:c.868A>T	NP_076927.1:p.Ile290Phe
NM_032404.2:c.487A>T	NP_115780.1:p.Ile163Phe
NM_032405.1:c.868A>T	NP_115781.1:p.Ile290Phe
NR_046020.1:n.1824A>T
NM_001256317.2:c.868A>T	NP_001243246.1:p.Ile290Phe
NM_024022.3:c.868A>T	NP_076927.1:p.Ile290Phe
NM_032405.2:c.868A>T	NP_115781.1:p.Ile290Phe
NM_001256317.3:c.868A>T MANE Select	NP_001243246.1:p.Ile290Phe
NM_024022.4:c.868A>T	NP_076927.1:p.Ile290Phe
NM_032404.3:c.487A>T	NP_115780.1:p.Ile163Phe