Canonical Allele Identifier: CA415085288

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152958943A>C (hg19) ; chrX:g.153693488A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693488A>C , CM000685.2:g.153693488A>C	GRCh38
NC_000023.10:g.152958943A>C , CM000685.1:g.152958943A>C	GRCh37
NC_000023.9:g.152612137A>C	NCBI36
NG_012016.1:g.10192A>C
NG_012016.2:g.10192A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1043A>C MANE Select	ENSP00000253122.5:p.Asn348Thr
ENST00000253122.9:c.1043A>C	ENSP00000253122.5:p.Asn348Thr
ENST00000413787.1:c.163-4A>C	ENSP00000400463.1:n.163-4A>C
ENST00000430077.6:c.698A>C	ENSP00000403041.2:p.Asn233Thr
ENST00000442457.1:c.101-4A>C
ENST00000457723.1:c.27A>C	ENSP00000394742.1:p.Gln9His
ENST00000467402.1:n.146-4A>C
ENST00000485324.1:n.1076A>C
NM_001142805.1:c.1017-4A>C	NP_001136277.1:n.1017-4A>C
NM_001142806.1:c.698A>C	NP_001136278.1:p.Asn233Thr
NM_005629.3:c.1043A>C	NP_005620.1:p.Asn348Thr
NM_005629.4:c.1043A>C MANE Select	NP_005620.1:p.Asn348Thr
NM_001142805.2:c.1017-4A>C	NP_001136277.1:n.1017-4A>C