Canonical Allele Identifier: CA357064459

Gene: TMPRSS11A

Linked Data

• ClinVar Variation Id: 2525598
• ClinVar RCV Id: RCV004302570
• gnomAD v4: 4-67932026-T-C
• MyVariant Identifiers: chr4:g.68797744T>C (hg19) ; chr4:g.67932026T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.67932026T>C , CM000666.2:g.67932026T>C	GRCh38
NC_000004.11:g.68797744T>C , CM000666.1:g.68797744T>C	GRCh37
NC_000004.10:g.68480339T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000508048.6:c.287A>G MANE Select	ENSP00000426911.2:p.Lys96Arg
ENST00000334830.11:c.296A>G	ENSP00000334611.7:p.Lys99Arg
ENST00000396188.3:c.287A>G	ENSP00000379491.3:p.Lys96Arg
ENST00000508048.5:c.287A>G	ENSP00000426911.2:p.Lys96Arg
ENST00000513536.5:c.227A>G	ENSP00000427621.1:p.Lys76Arg
NM_001114387.1:c.287A>G	NP_001107859.1:p.Lys96Arg
NM_182606.3:c.296A>G	NP_872412.3:p.Lys99Arg
NM_001114387.2:c.287A>G MANE Select	NP_001107859.1:p.Lys96Arg
NM_182606.4:c.296A>G	NP_872412.3:p.Lys99Arg