Canonical Allele Identifier: CA10549460

Gene: SLC6A8

Linked Data

• dbSNP Id: rs782366420
• ExAC: X:152959505 AG / A
• gnomAD v2: X-152959505-AG-A
• gnomAD v3: X-153694050-AG-A
• gnomAD v4: X-153694050-AG-A
• MyVariant Identifiers: chrX:g.152959506del (hg19) ; chrX:g.153694052del (hg38) ; chrX:g.153694051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694056del , CM000685.2:g.153694056del	GRCh38
NC_000023.10:g.152959511del , CM000685.1:g.152959511del	GRCh37
NC_000023.9:g.152612705del	NCBI36
NG_012016.1:g.10760del
NG_012016.2:g.10760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1254+39del MANE Select	ENSP00000253122.5:n.1254+39del
ENST00000253122.9:c.1254+39del	ENSP00000253122.5:n.1254+39del
ENST00000413787.1:c.258-148del	ENSP00000400463.1:n.258-148del
ENST00000430077.6:c.909+39del	ENSP00000403041.2:n.909+39del
ENST00000442457.1:c.308+39del
ENST00000457723.1:c.238+39del	ENSP00000394742.1:n.238+39del
ENST00000485324.1:n.1326del
NM_001142805.1:c.1224+39del	NP_001136277.1:n.1224+39del
NM_001142806.1:c.909+39del	NP_001136278.1:n.909+39del
NM_005629.3:c.1254+39del	NP_005620.1:n.1254+39del
NM_005629.4:c.1254+39del MANE Select	NP_005620.1:n.1254+39del
NM_001142805.2:c.1224+39del	NP_001136277.1:n.1224+39del