Canonical Allele Identifier: CA10042163

Gene: TMPRSS3

Linked Data

• dbSNP Id: rs538228372
• ExAC: 21:43792601 G / A
• gnomAD v2: 21-43792601-G-A
• gnomAD v3: 21-42372492-G-A
• gnomAD v4: 21-42372492-G-A
• MyVariant Identifiers: chr21:g.43792601G>A (hg19) ; chr21:g.42372492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42372492G>A , CM000683.2:g.42372492G>A	GRCh38
NC_000021.8:g.43792601G>A , CM000683.1:g.43792601G>A	GRCh37
NC_000021.7:g.42665670G>A	NCBI36
NG_011629.1:g.28600C>T
NG_011629.2:g.28600C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.*270C>T	ENSP00000411013.3:n.*270C>T
ENST00000644384.2:c.*270C>T MANE Select	ENSP00000494414.1:n.*270C>T
ENST00000652415.1:c.*270C>T	ENSP00000498756.1:n.*270C>T
ENST00000291532.7:c.*270C>T	ENSP00000291532.3:n.*270C>T
ENST00000398405.5:c.*270C>T	ENSP00000381442.1:n.*270C>T
ENST00000433957.6:c.*270C>T	ENSP00000411013.2:n.*270C>T
ENST00000474596.5:n.1503C>T
ENST00000476848.5:n.2367C>T
ENST00000482761.1:n.1922C>T
NM_001256317.1:c.*270C>T	NP_001243246.1:n.*270C>T
NM_024022.2:c.*270C>T	NP_076927.1:n.*270C>T
NM_032404.2:c.*270C>T	NP_115780.1:n.*270C>T
NR_046020.1:n.2591C>T
NM_001256317.2:c.*270C>T	NP_001243246.1:n.*270C>T
NM_024022.3:c.*270C>T	NP_076927.1:n.*270C>T
NM_001256317.3:c.*270C>T MANE Select	NP_001243246.1:n.*270C>T
NM_024022.4:c.*270C>T	NP_076927.1:n.*270C>T
NM_032404.3:c.*270C>T	NP_115780.1:n.*270C>T