Canonical Allele Identifier: CA10549483

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 533703
• ClinVar RCV Id: RCV000640935 ; RCV001472398
• dbSNP Id: rs781788160
• ExAC: X:152959614 C / T
• gnomAD v2: X-152959614-C-T
• gnomAD v4: X-153694159-C-T
• MyVariant Identifiers: chrX:g.152959614C>T (hg19) ; chrX:g.153694159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694159C>T , CM000685.2:g.153694159C>T	GRCh38
NC_000023.10:g.152959614C>T , CM000685.1:g.152959614C>T	GRCh37
NC_000023.9:g.152612808C>T	NCBI36
NG_012016.1:g.10863C>T
NG_012016.2:g.10863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1284C>T MANE Select	ENSP00000253122.5:p.Gly428=
ENST00000253122.9:c.1284C>T	ENSP00000253122.5:p.Gly428=
ENST00000413787.1:c.258-45C>T	ENSP00000400463.1:n.258-45C>T
ENST00000430077.6:c.939C>T	ENSP00000403041.2:p.Gly313=
ENST00000442457.1:c.338C>T
ENST00000457723.1:c.261C>T	ENSP00000394742.1:p.Gly87=
ENST00000485324.1:n.1429C>T
NM_001142805.1:c.1254C>T	NP_001136277.1:p.Gly418=
NM_001142806.1:c.939C>T	NP_001136278.1:p.Gly313=
NM_005629.3:c.1284C>T	NP_005620.1:p.Gly428=
NM_005629.4:c.1284C>T MANE Select	NP_005620.1:p.Gly428=
NM_001142805.2:c.1254C>T	NP_001136277.1:p.Gly418=