Canonical Allele Identifier: CA415085356

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693500G>A , CM000685.2:g.153693500G>A	GRCh38
NC_000023.10:g.152958955G>A , CM000685.1:g.152958955G>A	GRCh37
NC_000023.9:g.152612149G>A	NCBI36
NG_012016.1:g.10204G>A
NG_012016.2:g.10204G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1055G>A MANE Select	NP_005620.1:p.Ser352Asn
ENST00000253122.10:c.1055G>A MANE Select	ENSP00000253122.5:p.Ser352Asn
NM_001142805.1:c.1025G>A	NP_001136277.1:p.Ser342Asn
NM_001142805.2:c.1025G>A	NP_001136277.1:p.Ser342Asn
NM_001142806.1:c.710G>A	NP_001136278.1:p.Ser237Asn
NM_005629.3:c.1055G>A	NP_005620.1:p.Ser352Asn
ENST00000253122.9:c.1055G>A	ENSP00000253122.5:p.Ser352Asn
ENST00000413787.1:c.171G>A	ENSP00000400463.1:p.Gln57=
ENST00000430077.6:c.710G>A	ENSP00000403041.2:p.Ser237Asn
ENST00000442457.1:c.109G>A
ENST00000457723.1:c.39G>A	ENSP00000394742.1:p.Gln13=
ENST00000467402.1:n.154G>A
ENST00000485324.1:n.1088G>A