Canonical Allele Identifier: CA415086614

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 757307
• ClinVar RCV Id: RCV000934916
• dbSNP Id: rs1458755240
• gnomAD v2: X-152959460-T-C
• gnomAD v3: X-153694005-T-C
• gnomAD v4: X-153694005-T-C
• MyVariant Identifiers: chrX:g.152959460T>C (hg19) ; chrX:g.153694005T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694005T>C , CM000685.2:g.153694005T>C	GRCh38
NC_000023.10:g.152959460T>C , CM000685.1:g.152959460T>C	GRCh37
NC_000023.9:g.152612654T>C	NCBI36
NG_012016.1:g.10709T>C
NG_012016.2:g.10709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1242T>C MANE Select	ENSP00000253122.5:p.Gly414=
ENST00000253122.9:c.1242T>C	ENSP00000253122.5:p.Gly414=
ENST00000413787.1:c.258-199T>C	ENSP00000400463.1:n.258-199T>C
ENST00000430077.6:c.897T>C	ENSP00000403041.2:p.Gly299=
ENST00000442457.1:c.296T>C
ENST00000457723.1:c.226T>C	ENSP00000394742.1:p.Ser76Pro
ENST00000485324.1:n.1275T>C
NM_001142805.1:c.1212T>C	NP_001136277.1:p.Gly404=
NM_001142806.1:c.897T>C	NP_001136278.1:p.Gly299=
NM_005629.3:c.1242T>C	NP_005620.1:p.Gly414=
NM_005629.4:c.1242T>C MANE Select	NP_005620.1:p.Gly414=
NM_001142805.2:c.1212T>C	NP_001136277.1:p.Gly404=