Canonical Allele Identifier: CA415086756

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 588350
• ClinVar RCV Id: RCV002314443
• dbSNP Id: rs1569539421
• MyVariant Identifiers: chrX:g.152959627C>T (hg19) ; chrX:g.153694172C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694172C>T , CM000685.2:g.153694172C>T	GRCh38
NC_000023.10:g.152959627C>T , CM000685.1:g.152959627C>T	GRCh37
NC_000023.9:g.152612821C>T	NCBI36
NG_012016.1:g.10876C>T
NG_012016.2:g.10876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1297C>T MANE Select	ENSP00000253122.5:p.Leu433Phe
ENST00000253122.9:c.1297C>T	ENSP00000253122.5:p.Leu433Phe
ENST00000413787.1:c.258-32C>T	ENSP00000400463.1:n.258-32C>T
ENST00000430077.6:c.952C>T	ENSP00000403041.2:p.Leu318Phe
ENST00000442457.1:c.351C>T
ENST00000485324.1:n.1442C>T
NM_001142805.1:c.1267C>T	NP_001136277.1:p.Leu423Phe
NM_001142806.1:c.952C>T	NP_001136278.1:p.Leu318Phe
NM_005629.3:c.1297C>T	NP_005620.1:p.Leu433Phe
NM_005629.4:c.1297C>T MANE Select	NP_005620.1:p.Leu433Phe
NM_001142805.2:c.1267C>T	NP_001136277.1:p.Leu423Phe