Canonical Allele Identifier: CA515685524
Gene: TSPAN7 HGNC NCBI

Linked Data

dbSNP Id: rs201111174
MyVariant Identifiers: chrX:g.38535093C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675839C>A , CM000685.2:g.38675839C>A GRCh38
NC_000023.10:g.38535093C>A , CM000685.1:g.38535093C>A GRCh37
NC_000023.9:g.38420037C>A NCBI36
NG_009160.1:g.119363C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.576C>A MANE Select ENSP00000367743.2:p.Ala192=
ENST00000286824.6:c.627C>A ENSP00000286824.6:p.Ala209=
ENST00000378482.6:c.576C>A ENSP00000367743.2:p.Ala192=
ENST00000419600.3:n.520C>A
ENST00000465127.1:c.666C>A ENSP00000417050.1:p.Ala222=
ENST00000471410.5:c.*602C>A ENSP00000419290.1:n.*602C>A
ENST00000475216.5:c.*569C>A ENSP00000418586.1:n.*569C>A
NM_004615.3:c.576C>A NP_004606.2:p.Ala192=
NM_004615.4:c.576C>A MANE Select NP_004606.2:p.Ala192=