Canonical Allele Identifier: CA415086735

Gene: SLC6A8

Linked Data

• COSMIC: COSM3559506
• MyVariant Identifiers: chrX:g.152959618C>T (hg19) ; chrX:g.153694163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694163C>T , CM000685.2:g.153694163C>T	GRCh38
NC_000023.10:g.152959618C>T , CM000685.1:g.152959618C>T	GRCh37
NC_000023.9:g.152612812C>T	NCBI36
NG_012016.1:g.10867C>T
NG_012016.2:g.10867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1288C>T MANE Select	ENSP00000253122.5:p.Leu430Phe
ENST00000253122.9:c.1288C>T	ENSP00000253122.5:p.Leu430Phe
ENST00000413787.1:c.258-41C>T	ENSP00000400463.1:n.258-41C>T
ENST00000430077.6:c.943C>T	ENSP00000403041.2:p.Leu315Phe
ENST00000442457.1:c.342C>T
ENST00000457723.1:c.265C>T
ENST00000485324.1:n.1433C>T
NM_001142805.1:c.1258C>T	NP_001136277.1:p.Leu420Phe
NM_001142806.1:c.943C>T	NP_001136278.1:p.Leu315Phe
NM_005629.3:c.1288C>T	NP_005620.1:p.Leu430Phe
NM_005629.4:c.1288C>T MANE Select	NP_005620.1:p.Leu430Phe
NM_001142805.2:c.1258C>T	NP_001136277.1:p.Leu420Phe