Canonical Allele Identifier: CA415078053

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152955953T>G (hg19) ; chrX:g.153690498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690498T>G , CM000685.2:g.153690498T>G	GRCh38
NC_000023.10:g.152955953T>G , CM000685.1:g.152955953T>G	GRCh37
NC_000023.9:g.152609147T>G	NCBI36
NG_012016.1:g.7202T>G
NG_012016.2:g.7202T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.386T>G MANE Select	ENSP00000253122.5:p.Leu129Arg
ENST00000675713.1:n.140T>G
ENST00000253122.9:c.386T>G	ENSP00000253122.5:p.Leu129Arg
ENST00000430077.6:c.41T>G	ENSP00000403041.2:p.Leu14Arg
ENST00000476466.1:n.238T>G
NM_001142805.1:c.386T>G	NP_001136277.1:p.Leu129Arg
NM_001142806.1:c.41T>G	NP_001136278.1:p.Leu14Arg
NM_005629.3:c.386T>G	NP_005620.1:p.Leu129Arg
NM_005629.4:c.386T>G MANE Select	NP_005620.1:p.Leu129Arg
NM_001142805.2:c.386T>G	NP_001136277.1:p.Leu129Arg