Canonical Allele Identifier: CA10042430

Gene: TMPRSS3

Linked Data

• ClinVar Variation Id: 499497
• ClinVar RCV Id: RCV000595288 ; RCV004024768
• dbSNP Id: rs774844255
• ExAC: 21:43802211 G / A
• gnomAD v2: 21-43802211-G-A
• gnomAD v3: 21-42382102-G-A
• gnomAD v4: 21-42382102-G-A
• COSMIC: COSM3551153 ; COSM3551154 ; COSM3551155
• MyVariant Identifiers: chr21:g.43802211G>A (hg19) ; chr21:g.42382102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42382102G>A , CM000683.2:g.42382102G>A	GRCh38
NC_000021.8:g.43802211G>A , CM000683.1:g.43802211G>A	GRCh37
NC_000021.7:g.42675280G>A	NCBI36
NG_011629.1:g.18990C>T
NG_011629.2:g.18990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433957.7:c.915C>T	ENSP00000411013.3:p.Ile305=
ENST00000644384.2:c.915C>T MANE Select	ENSP00000494414.1:p.Ile305=
ENST00000652415.1:c.915C>T	ENSP00000498756.1:p.Ile305=
ENST00000291532.7:c.915C>T	ENSP00000291532.3:p.Ile305=
ENST00000398397.3:c.915C>T	ENSP00000381434.3:p.Ile305=
ENST00000398405.5:c.909C>T	ENSP00000381442.1:p.Ile303=
ENST00000433957.6:c.915C>T	ENSP00000411013.2:p.Ile305=
ENST00000474596.5:n.783C>T
ENST00000476848.5:n.1650C>T
ENST00000478680.1:n.192C>T
ENST00000482761.1:n.1202C>T
NM_001256317.1:c.915C>T	NP_001243246.1:p.Ile305=
NM_024022.2:c.915C>T	NP_076927.1:p.Ile305=
NM_032404.2:c.534C>T	NP_115780.1:p.Ile178=
NM_032405.1:c.915C>T	NP_115781.1:p.Ile305=
NR_046020.1:n.1871C>T
NM_001256317.2:c.915C>T	NP_001243246.1:p.Ile305=
NM_024022.3:c.915C>T	NP_076927.1:p.Ile305=
NM_032405.2:c.915C>T	NP_115781.1:p.Ile305=
NM_001256317.3:c.915C>T MANE Select	NP_001243246.1:p.Ile305=
NM_024022.4:c.915C>T	NP_076927.1:p.Ile305=
NM_032404.3:c.534C>T	NP_115780.1:p.Ile178=