Canonical Allele Identifier: CA415086331

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959404A>T (hg19) ; chrX:g.153693949A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693949A>T , CM000685.2:g.153693949A>T	GRCh38
NC_000023.10:g.152959404A>T , CM000685.1:g.152959404A>T	GRCh37
NC_000023.9:g.152612598A>T	NCBI36
NG_012016.1:g.10653A>T
NG_012016.2:g.10653A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1186A>T MANE Select	ENSP00000253122.5:p.Met396Leu
ENST00000253122.9:c.1186A>T	ENSP00000253122.5:p.Met396Leu
ENST00000413787.1:c.258-255A>T	ENSP00000400463.1:n.258-255A>T
ENST00000430077.6:c.841A>T	ENSP00000403041.2:p.Met281Leu
ENST00000442457.1:c.240A>T
ENST00000457723.1:c.170A>T	ENSP00000394742.1:p.Asp57Val
ENST00000467402.1:n.285A>T
ENST00000485324.1:n.1219A>T
NM_001142805.1:c.1156A>T	NP_001136277.1:p.Met386Leu
NM_001142806.1:c.841A>T	NP_001136278.1:p.Met281Leu
NM_005629.3:c.1186A>T	NP_005620.1:p.Met396Leu
NM_005629.4:c.1186A>T MANE Select	NP_005620.1:p.Met396Leu
NM_001142805.2:c.1156A>T	NP_001136277.1:p.Met386Leu