Canonical Allele Identifier: CA415084749

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693330T>C , CM000685.2:g.153693330T>C	GRCh38
NC_000023.10:g.152958785T>C , CM000685.1:g.152958785T>C	GRCh37
NC_000023.9:g.152611979T>C	NCBI36
NG_012016.1:g.10034T>C
NG_012016.2:g.10034T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.980T>C MANE Select	NP_005620.1:p.Leu327Pro
ENST00000253122.10:c.980T>C MANE Select	ENSP00000253122.5:p.Leu327Pro
NM_001142805.1:c.980T>C	NP_001136277.1:p.Leu327Pro
NM_001142805.2:c.980T>C	NP_001136277.1:p.Leu327Pro
NM_001142806.1:c.635T>C	NP_001136278.1:p.Leu212Pro
NM_005629.3:c.980T>C	NP_005620.1:p.Leu327Pro
ENST00000253122.9:c.980T>C	ENSP00000253122.5:p.Leu327Pro
ENST00000413787.1:c.126T>C	ENSP00000400463.1:p.Pro42=
ENST00000430077.6:c.635T>C	ENSP00000403041.2:p.Leu212Pro
ENST00000442457.1:c.64T>C
ENST00000467402.1:n.146-162T>C
ENST00000485324.1:n.1013T>C