Canonical Allele Identifier: CA415086274

Gene: SLC6A8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1177G>C MANE Select	ENSP00000253122.5:p.Val393Leu
ENST00000253122.9:c.1177G>C	ENSP00000253122.5:p.Val393Leu
ENST00000413787.1:c.258-264G>C	ENSP00000400463.1:n.258-264G>C
ENST00000430077.6:c.832G>C	ENSP00000403041.2:p.Val278Leu
ENST00000442457.1:c.231G>C
ENST00000457723.1:c.161G>C	ENSP00000394742.1:p.Cys54Ser
ENST00000467402.1:n.276G>C
ENST00000485324.1:n.1210G>C
NM_001142805.1:c.1147G>C	NP_001136277.1:p.Val383Leu
NM_001142806.1:c.832G>C	NP_001136278.1:p.Val278Leu
NM_005629.3:c.1177G>C	NP_005620.1:p.Val393Leu
NM_005629.4:c.1177G>C MANE Select	NP_005620.1:p.Val393Leu
NM_001142805.2:c.1147G>C	NP_001136277.1:p.Val383Leu