Canonical Allele Identifier: CA10549332

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693082C>T , CM000685.2:g.153693082C>T	GRCh38
NC_000023.10:g.152958537C>T , CM000685.1:g.152958537C>T	GRCh37
NC_000023.9:g.152611731C>T	NCBI36
NG_012016.1:g.9786C>T
NG_012016.2:g.9786C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.819C>T MANE Select	NP_005620.1:p.Val273=
ENST00000253122.10:c.819C>T MANE Select	ENSP00000253122.5:p.Val273=
NM_001142805.1:c.819C>T	NP_001136277.1:p.Val273=
NM_001142805.2:c.819C>T	NP_001136277.1:p.Val273=
NM_001142806.1:c.474C>T	NP_001136278.1:p.Val158=
NM_005629.3:c.819C>T	NP_005620.1:p.Val273=
ENST00000253122.9:c.819C>T	ENSP00000253122.5:p.Val273=
ENST00000413787.1:c.29C>T	ENSP00000400463.1:p.Ser10Leu
ENST00000430077.6:c.474C>T	ENSP00000403041.2:p.Val158=
ENST00000467402.1:n.146-410C>T
ENST00000485324.1:n.852C>T