Canonical Allele Identifier: CA519190660

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959596G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694141G>C , CM000685.2:g.153694141G>C	GRCh38
NC_000023.10:g.152959596G>C , CM000685.1:g.152959596G>C	GRCh37
NC_000023.9:g.152612790G>C	NCBI36
NG_012016.1:g.10845G>C
NG_012016.2:g.10845G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1266G>C MANE Select	ENSP00000253122.5:p.Val422=
ENST00000253122.9:c.1266G>C	ENSP00000253122.5:p.Val422=
ENST00000413787.1:c.258-63G>C	ENSP00000400463.1:n.258-63G>C
ENST00000430077.6:c.921G>C	ENSP00000403041.2:p.Val307=
ENST00000442457.1:c.320G>C
ENST00000457723.1:c.243G>C	ENSP00000394742.1:p.Val81=
ENST00000485324.1:n.1411G>C
NM_001142805.1:c.1236G>C	NP_001136277.1:p.Val412=
NM_001142806.1:c.921G>C	NP_001136278.1:p.Val307=
NM_005629.3:c.1266G>C	NP_005620.1:p.Val422=
NM_005629.4:c.1266G>C MANE Select	NP_005620.1:p.Val422=
NM_001142805.2:c.1236G>C	NP_001136277.1:p.Val412=