Canonical Allele Identifier: CA415086257

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959392G>C (hg19) ; chrX:g.153693937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693937G>C , CM000685.2:g.153693937G>C	GRCh38
NC_000023.10:g.152959392G>C , CM000685.1:g.152959392G>C	GRCh37
NC_000023.9:g.152612586G>C	NCBI36
NG_012016.1:g.10641G>C
NG_012016.2:g.10641G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1174G>C MANE Select	ENSP00000253122.5:p.Ala392Pro
ENST00000253122.9:c.1174G>C	ENSP00000253122.5:p.Ala392Pro
ENST00000413787.1:c.258-267G>C	ENSP00000400463.1:n.258-267G>C
ENST00000430077.6:c.829G>C	ENSP00000403041.2:p.Ala277Pro
ENST00000442457.1:c.228G>C
ENST00000457723.1:c.158G>C	ENSP00000394742.1:p.Gly53Ala
ENST00000467402.1:n.273G>C
ENST00000485324.1:n.1207G>C
NM_001142805.1:c.1144G>C	NP_001136277.1:p.Ala382Pro
NM_001142806.1:c.829G>C	NP_001136278.1:p.Ala277Pro
NM_005629.3:c.1174G>C	NP_005620.1:p.Ala392Pro
NM_005629.4:c.1174G>C MANE Select	NP_005620.1:p.Ala392Pro
NM_001142805.2:c.1144G>C	NP_001136277.1:p.Ala382Pro