Canonical Allele Identifier: CA519185042

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2047963
• ClinVar RCV Id: RCV002926986
• dbSNP Id: rs2091449160
• gnomAD v3: X-153690478-T-C
• gnomAD v4: X-153690478-T-C
• MyVariant Identifiers: chrX:g.152955933T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690478T>C , CM000685.2:g.153690478T>C	GRCh38
NC_000023.10:g.152955933T>C , CM000685.1:g.152955933T>C	GRCh37
NC_000023.9:g.152609127T>C	NCBI36
NG_012016.1:g.7182T>C
NG_012016.2:g.7182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.366T>C MANE Select	ENSP00000253122.5:p.Asn122=
ENST00000675713.1:n.120T>C
ENST00000253122.9:c.366T>C	ENSP00000253122.5:p.Asn122=
ENST00000430077.6:c.21T>C	ENSP00000403041.2:p.Asn7=
ENST00000476466.1:n.218T>C
NM_001142805.1:c.366T>C	NP_001136277.1:p.Asn122=
NM_001142806.1:c.21T>C	NP_001136278.1:p.Asn7=
NM_005629.3:c.366T>C	NP_005620.1:p.Asn122=
NM_005629.4:c.366T>C MANE Select	NP_005620.1:p.Asn122=
NM_001142805.2:c.366T>C	NP_001136277.1:p.Asn122=