Canonical Allele Identifier: CA415080198

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153692046T>C , CM000685.2:g.153692046T>C	GRCh38
NC_000023.10:g.152957501T>C , CM000685.1:g.152957501T>C	GRCh37
NC_000023.9:g.152610695T>C	NCBI36
NG_012016.1:g.8750T>C
NG_012016.2:g.8750T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.716T>C MANE Select	NP_005620.1:p.Leu239Pro
ENST00000253122.10:c.716T>C MANE Select	ENSP00000253122.5:p.Leu239Pro
NM_001142805.1:c.716T>C	NP_001136277.1:p.Leu239Pro
NM_001142805.2:c.716T>C	NP_001136277.1:p.Leu239Pro
NM_001142806.1:c.371T>C	NP_001136278.1:p.Leu124Pro
NM_005629.3:c.716T>C	NP_005620.1:p.Leu239Pro
ENST00000253122.9:c.716T>C	ENSP00000253122.5:p.Leu239Pro
ENST00000429147.1:c.165T>C
ENST00000430077.6:c.371T>C	ENSP00000403041.2:p.Leu124Pro
ENST00000466243.1:n.508T>C
ENST00000467402.1:n.145+539T>C
ENST00000675713.1:n.470T>C