Canonical Allele Identifier: CA10042587

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 3020883
• ClinVar RCV Id: RCV003880042
• dbSNP Id: rs761566020
• ExAC: 21:43805504 G / A
• gnomAD v2: 21-43805504-G-A
• gnomAD v3: 21-42385395-G-A
• gnomAD v4: 21-42385395-G-A
• MyVariant Identifiers: chr21:g.43805504G>A (hg19) ; chr21:g.42385395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385395G>A , CM000683.2:g.42385395G>A	GRCh38
NC_000021.8:g.43805504G>A , CM000683.1:g.43805504G>A	GRCh37
NC_000021.7:g.42678573G>A	NCBI36
NG_011629.1:g.15697C>T
NG_011629.2:g.15697C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.572+14C>T	ENSP00000411013.3:n.572+14C>T
ENST00000644384.2:c.572+14C>T MANE Select	ENSP00000494414.1:n.572+14C>T
ENST00000652415.1:c.572+14C>T	ENSP00000498756.1:n.572+14C>T
ENST00000291532.7:c.572+14C>T	ENSP00000291532.3:n.572+14C>T
ENST00000398397.3:c.572+14C>T	ENSP00000381434.3:n.572+14C>T
ENST00000398405.5:c.566+14C>T	ENSP00000381442.1:n.566+14C>T
ENST00000433957.6:c.572+14C>T	ENSP00000411013.2:n.572+14C>T
ENST00000474596.5:n.440+14C>T
ENST00000482761.1:n.859+14C>T
NM_001256317.1:c.572+14C>T	NP_001243246.1:n.572+14C>T
NM_024022.2:c.572+14C>T	NP_076927.1:n.572+14C>T
NM_032404.2:c.191+14C>T	NP_115780.1:n.191+14C>T
NM_032405.1:c.572+14C>T	NP_115781.1:n.572+14C>T
NR_046020.1:n.1528+14C>T
NM_001256317.2:c.572+14C>T	NP_001243246.1:n.572+14C>T
NM_024022.3:c.572+14C>T	NP_076927.1:n.572+14C>T
NM_032405.2:c.572+14C>T	NP_115781.1:n.572+14C>T
NM_001256317.3:c.572+14C>T MANE Select	NP_001243246.1:n.572+14C>T
NM_024022.4:c.572+14C>T	NP_076927.1:n.572+14C>T
NM_032404.3:c.191+14C>T	NP_115780.1:n.191+14C>T