Canonical Allele Identifier: CA415078810

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153691402A>C , CM000685.2:g.153691402A>C	GRCh38
NC_000023.10:g.152956857A>C , CM000685.1:g.152956857A>C	GRCh37
NC_000023.9:g.152610051A>C	NCBI36
NG_012016.1:g.8106A>C
NG_012016.2:g.8106A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.493A>C MANE Select	NP_005620.1:p.Thr165Pro
ENST00000253122.10:c.493A>C MANE Select	ENSP00000253122.5:p.Thr165Pro
NM_001142805.1:c.493A>C	NP_001136277.1:p.Thr165Pro
NM_001142805.2:c.493A>C	NP_001136277.1:p.Thr165Pro
NM_001142806.1:c.148A>C	NP_001136278.1:p.Thr50Pro
NM_005629.3:c.493A>C	NP_005620.1:p.Thr165Pro
ENST00000253122.9:c.493A>C	ENSP00000253122.5:p.Thr165Pro
ENST00000430077.6:c.148A>C	ENSP00000403041.2:p.Thr50Pro
ENST00000466243.1:n.285A>C
ENST00000467402.1:n.40A>C
ENST00000675713.1:n.247A>C