Canonical Allele Identifier: CA415086750

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959624C>T (hg19) ; chrX:g.153694169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694169C>T , CM000685.2:g.153694169C>T	GRCh38
NC_000023.10:g.152959624C>T , CM000685.1:g.152959624C>T	GRCh37
NC_000023.9:g.152612818C>T	NCBI36
NG_012016.1:g.10873C>T
NG_012016.2:g.10873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1294C>T MANE Select	ENSP00000253122.5:p.Leu432Phe
ENST00000253122.9:c.1294C>T	ENSP00000253122.5:p.Leu432Phe
ENST00000413787.1:c.258-35C>T	ENSP00000400463.1:n.258-35C>T
ENST00000430077.6:c.949C>T	ENSP00000403041.2:p.Leu317Phe
ENST00000442457.1:c.348C>T
ENST00000485324.1:n.1439C>T
NM_001142805.1:c.1264C>T	NP_001136277.1:p.Leu422Phe
NM_001142806.1:c.949C>T	NP_001136278.1:p.Leu317Phe
NM_005629.3:c.1294C>T	NP_005620.1:p.Leu432Phe
NM_005629.4:c.1294C>T MANE Select	NP_005620.1:p.Leu432Phe
NM_001142805.2:c.1264C>T	NP_001136277.1:p.Leu422Phe