Canonical Allele Identifier: CA415086292

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959398A>C (hg19) ; chrX:g.153693943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693943A>C , CM000685.2:g.153693943A>C	GRCh38
NC_000023.10:g.152959398A>C , CM000685.1:g.152959398A>C	GRCh37
NC_000023.9:g.152612592A>C	NCBI36
NG_012016.1:g.10647A>C
NG_012016.2:g.10647A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1180A>C MANE Select	ENSP00000253122.5:p.Thr394Pro
ENST00000253122.9:c.1180A>C	ENSP00000253122.5:p.Thr394Pro
ENST00000413787.1:c.258-261A>C	ENSP00000400463.1:n.258-261A>C
ENST00000430077.6:c.835A>C	ENSP00000403041.2:p.Thr279Pro
ENST00000442457.1:c.234A>C
ENST00000457723.1:c.164A>C	ENSP00000394742.1:p.His55Pro
ENST00000467402.1:n.279A>C
ENST00000485324.1:n.1213A>C
NM_001142805.1:c.1150A>C	NP_001136277.1:p.Thr384Pro
NM_001142806.1:c.835A>C	NP_001136278.1:p.Thr279Pro
NM_005629.3:c.1180A>C	NP_005620.1:p.Thr394Pro
NM_005629.4:c.1180A>C MANE Select	NP_005620.1:p.Thr394Pro
NM_001142805.2:c.1150A>C	NP_001136277.1:p.Thr384Pro