Canonical Allele Identifier: CA415086357

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959408C>G (hg19) ; chrX:g.153693953C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693953C>G , CM000685.2:g.153693953C>G	GRCh38
NC_000023.10:g.152959408C>G , CM000685.1:g.152959408C>G	GRCh37
NC_000023.9:g.152612602C>G	NCBI36
NG_012016.1:g.10657C>G
NG_012016.2:g.10657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1190C>G MANE Select	ENSP00000253122.5:p.Pro397Arg
ENST00000253122.9:c.1190C>G	ENSP00000253122.5:p.Pro397Arg
ENST00000413787.1:c.258-251C>G	ENSP00000400463.1:n.258-251C>G
ENST00000430077.6:c.845C>G	ENSP00000403041.2:p.Pro282Arg
ENST00000442457.1:c.244C>G
ENST00000457723.1:c.174C>G	ENSP00000394742.1:p.Ala58=
ENST00000467402.1:n.289C>G
ENST00000485324.1:n.1223C>G
NM_001142805.1:c.1160C>G	NP_001136277.1:p.Pro387Arg
NM_001142806.1:c.845C>G	NP_001136278.1:p.Pro282Arg
NM_005629.3:c.1190C>G	NP_005620.1:p.Pro397Arg
NM_005629.4:c.1190C>G MANE Select	NP_005620.1:p.Pro397Arg
NM_001142805.2:c.1160C>G	NP_001136277.1:p.Pro387Arg