Canonical Allele Identifier: CA519344949

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959716G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694261G>T , CM000685.2:g.153694261G>T	GRCh38
NC_000023.10:g.152959716G>T , CM000685.1:g.152959716G>T	GRCh37
NC_000023.9:g.152612910G>T	NCBI36
NG_012016.1:g.10965G>T
NG_012016.2:g.10965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1386G>T MANE Select	ENSP00000253122.5:p.Val462=
ENST00000253122.9:c.1386G>T	ENSP00000253122.5:p.Val462=
ENST00000413787.1:c.315G>T	ENSP00000400463.1:p.Val105=
ENST00000430077.6:c.1041G>T	ENSP00000403041.2:p.Val347=
ENST00000442457.1:c.440G>T
ENST00000485324.1:n.1531G>T
NM_001142805.1:c.1356G>T	NP_001136277.1:p.Val452=
NM_001142806.1:c.1041G>T	NP_001136278.1:p.Val347=
NM_005629.3:c.1386G>T	NP_005620.1:p.Val462=
NM_005629.4:c.1386G>T MANE Select	NP_005620.1:p.Val462=
NM_001142805.2:c.1356G>T	NP_001136277.1:p.Val452=