Canonical Allele Identifier: CA10549503

Gene: SLC6A8

Linked Data

• dbSNP Id: rs782520297
• ExAC: X:152959751 C / T
• MyVariant Identifiers: chrX:g.152959751C>T (hg19) ; chrX:g.153694296C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694296C>T , CM000685.2:g.153694296C>T	GRCh38
NC_000023.10:g.152959751C>T , CM000685.1:g.152959751C>T	GRCh37
NC_000023.9:g.152612945C>T	NCBI36
NG_012016.1:g.11000C>T
NG_012016.2:g.11000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+29C>T MANE Select	ENSP00000253122.5:n.1392+29C>T
ENST00000253122.9:c.1392+29C>T	ENSP00000253122.5:n.1392+29C>T
ENST00000413787.1:c.321+29C>T	ENSP00000400463.1:n.321+29C>T
ENST00000430077.6:c.1047+29C>T	ENSP00000403041.2:n.1047+29C>T
ENST00000442457.1:c.446+29C>T
ENST00000485324.1:n.1566C>T
NM_001142805.1:c.1362+29C>T	NP_001136277.1:n.1362+29C>T
NM_001142806.1:c.1047+29C>T	NP_001136278.1:n.1047+29C>T
NM_005629.3:c.1392+29C>T	NP_005620.1:n.1392+29C>T
NM_005629.4:c.1392+29C>T MANE Select	NP_005620.1:n.1392+29C>T
NM_001142805.2:c.1362+29C>T	NP_001136277.1:n.1362+29C>T