Canonical Allele Identifier: CA412982351

Gene: TSPAN7

Linked Data

• gnomAD v4: X-38675840-G-T
• MyVariant Identifiers: chrX:g.38535094G>T (hg19) ; chrX:g.38675840G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675840G>T , CM000685.2:g.38675840G>T	GRCh38
NC_000023.10:g.38535094G>T , CM000685.1:g.38535094G>T	GRCh37
NC_000023.9:g.38420038G>T	NCBI36
NG_009160.1:g.119364G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.577G>T MANE Select	ENSP00000367743.2:p.Ala193Ser
ENST00000286824.6:c.628G>T	ENSP00000286824.6:p.Ala210Ser
ENST00000378482.6:c.577G>T	ENSP00000367743.2:p.Ala193Ser
ENST00000419600.3:n.521G>T
ENST00000465127.1:c.667G>T	ENSP00000417050.1:p.Ala223Ser
ENST00000471410.5:c.*603G>T	ENSP00000419290.1:n.*603G>T
ENST00000475216.5:c.*570G>T	ENSP00000418586.1:n.*570G>T
NM_004615.3:c.577G>T	NP_004606.2:p.Ala193Ser
NM_004615.4:c.577G>T MANE Select	NP_004606.2:p.Ala193Ser