Canonical Allele Identifier: CA10549479

Gene: SLC6A8

Linked Data

• dbSNP Id: rs782772163
• ExAC: X:152959561 C / T
• gnomAD v2: X-152959561-C-T
• gnomAD v3: X-153694106-C-T
• gnomAD v4: X-153694106-C-T
• MyVariant Identifiers: chrX:g.152959561C>T (hg19) ; chrX:g.153694106C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694106C>T , CM000685.2:g.153694106C>T	GRCh38
NC_000023.10:g.152959561C>T , CM000685.1:g.152959561C>T	GRCh37
NC_000023.9:g.152612755C>T	NCBI36
NG_012016.1:g.10810C>T
NG_012016.2:g.10810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-24C>T MANE Select	ENSP00000253122.5:n.1255-24C>T
ENST00000253122.9:c.1255-24C>T	ENSP00000253122.5:n.1255-24C>T
ENST00000413787.1:c.258-98C>T	ENSP00000400463.1:n.258-98C>T
ENST00000430077.6:c.910-24C>T	ENSP00000403041.2:n.910-24C>T
ENST00000442457.1:c.309-24C>T
ENST00000457723.1:c.239-31C>T	ENSP00000394742.1:n.239-31C>T
ENST00000485324.1:n.1376C>T
NM_001142805.1:c.1225-24C>T	NP_001136277.1:n.1225-24C>T
NM_001142806.1:c.910-24C>T	NP_001136278.1:n.910-24C>T
NM_005629.3:c.1255-24C>T	NP_005620.1:n.1255-24C>T
NM_005629.4:c.1255-24C>T MANE Select	NP_005620.1:n.1255-24C>T
NM_001142805.2:c.1225-24C>T	NP_001136277.1:n.1225-24C>T