Canonical Allele Identifier: CA415086276

Gene: SLC6A8

Linked Data

• COSMIC: COSM6242069
• MyVariant Identifiers: chrX:g.152959395G>T (hg19) ; chrX:g.153693940G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693940G>T , CM000685.2:g.153693940G>T	GRCh38
NC_000023.10:g.152959395G>T , CM000685.1:g.152959395G>T	GRCh37
NC_000023.9:g.152612589G>T	NCBI36
NG_012016.1:g.10644G>T
NG_012016.2:g.10644G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1177G>T MANE Select	ENSP00000253122.5:p.Val393Phe
ENST00000253122.9:c.1177G>T	ENSP00000253122.5:p.Val393Phe
ENST00000413787.1:c.258-264G>T	ENSP00000400463.1:n.258-264G>T
ENST00000430077.6:c.832G>T	ENSP00000403041.2:p.Val278Phe
ENST00000442457.1:c.231G>T
ENST00000457723.1:c.161G>T	ENSP00000394742.1:p.Cys54Phe
ENST00000467402.1:n.276G>T
ENST00000485324.1:n.1210G>T
NM_001142805.1:c.1147G>T	NP_001136277.1:p.Val383Phe
NM_001142806.1:c.832G>T	NP_001136278.1:p.Val278Phe
NM_005629.3:c.1177G>T	NP_005620.1:p.Val393Phe
NM_005629.4:c.1177G>T MANE Select	NP_005620.1:p.Val393Phe
NM_001142805.2:c.1147G>T	NP_001136277.1:p.Val383Phe