Canonical Allele Identifier: CA410372443

Gene: TMPRSS3

Linked Data

• gnomAD v4: 21-42382085-G-A
• MyVariant Identifiers: chr21:g.43802194G>A (hg19) ; chr21:g.42382085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382085G>A , CM000683.2:g.42382085G>A	GRCh38
NC_000021.8:g.43802194G>A , CM000683.1:g.43802194G>A	GRCh37
NC_000021.7:g.42675263G>A	NCBI36
NG_011629.1:g.19007C>T
NG_011629.2:g.19007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.932C>T	ENSP00000411013.3:p.Ala311Val
ENST00000644384.2:c.932C>T MANE Select	ENSP00000494414.1:p.Ala311Val
ENST00000652415.1:c.932C>T	ENSP00000498756.1:p.Ala311Val
ENST00000291532.7:c.932C>T	ENSP00000291532.3:p.Ala311Val
ENST00000398397.3:c.932C>T	ENSP00000381434.3:p.Ala311Val
ENST00000398405.5:c.926C>T	ENSP00000381442.1:p.Ala309Val
ENST00000433957.6:c.932C>T	ENSP00000411013.2:p.Ala311Val
ENST00000474596.5:n.800C>T
ENST00000476848.5:n.1667C>T
ENST00000478680.1:n.209C>T
ENST00000482761.1:n.1219C>T
NM_001256317.1:c.932C>T	NP_001243246.1:p.Ala311Val
NM_024022.2:c.932C>T	NP_076927.1:p.Ala311Val
NM_032404.2:c.551C>T	NP_115780.1:p.Ala184Val
NM_032405.1:c.932C>T	NP_115781.1:p.Ala311Val
NR_046020.1:n.1888C>T
NM_001256317.2:c.932C>T	NP_001243246.1:p.Ala311Val
NM_024022.3:c.932C>T	NP_076927.1:p.Ala311Val
NM_032405.2:c.932C>T	NP_115781.1:p.Ala311Val
NM_001256317.3:c.932C>T MANE Select	NP_001243246.1:p.Ala311Val
NM_024022.4:c.932C>T	NP_076927.1:p.Ala311Val
NM_032404.3:c.551C>T	NP_115780.1:p.Ala184Val