Canonical Allele Identifier: CA410374749

Gene: TMPRSS3

Linked Data

• MyVariant Identifiers: chr21:g.43805522C>G (hg19) ; chr21:g.42385413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42385413C>G , CM000683.2:g.42385413C>G	GRCh38
NC_000021.8:g.43805522C>G , CM000683.1:g.43805522C>G	GRCh37
NC_000021.7:g.42678591C>G	NCBI36
NG_011629.1:g.15679G>C
NG_011629.2:g.15679G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000433957.7:c.568G>C	ENSP00000411013.3:p.Val190Leu
ENST00000644384.2:c.568G>C MANE Select	ENSP00000494414.1:p.Val190Leu
ENST00000652415.1:c.568G>C	ENSP00000498756.1:p.Val190Leu
ENST00000291532.7:c.568G>C	ENSP00000291532.3:p.Val190Leu
ENST00000398397.3:c.568G>C	ENSP00000381434.3:p.Val190Leu
ENST00000398405.5:c.562G>C	ENSP00000381442.1:p.Val188Leu
ENST00000433957.6:c.568G>C	ENSP00000411013.2:p.Val190Leu
ENST00000474596.5:n.436G>C
ENST00000482761.1:n.855G>C
NM_001256317.1:c.568G>C	NP_001243246.1:p.Val190Leu
NM_024022.2:c.568G>C	NP_076927.1:p.Val190Leu
NM_032404.2:c.187G>C	NP_115780.1:p.Val63Leu
NM_032405.1:c.568G>C	NP_115781.1:p.Val190Leu
NR_046020.1:n.1524G>C
NM_001256317.2:c.568G>C	NP_001243246.1:p.Val190Leu
NM_024022.3:c.568G>C	NP_076927.1:p.Val190Leu
NM_032405.2:c.568G>C	NP_115781.1:p.Val190Leu
NM_001256317.3:c.568G>C MANE Select	NP_001243246.1:p.Val190Leu
NM_024022.4:c.568G>C	NP_076927.1:p.Val190Leu
NM_032404.3:c.187G>C	NP_115780.1:p.Val63Leu