Canonical Allele Identifier: CA415078076

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690501-T-C
• MyVariant Identifiers: chrX:g.152955956T>C (hg19) ; chrX:g.153690501T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690501T>C , CM000685.2:g.153690501T>C	GRCh38
NC_000023.10:g.152955956T>C , CM000685.1:g.152955956T>C	GRCh37
NC_000023.9:g.152609150T>C	NCBI36
NG_012016.1:g.7205T>C
NG_012016.2:g.7205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.389T>C MANE Select	ENSP00000253122.5:p.Phe130Ser
ENST00000675713.1:n.143T>C
ENST00000253122.9:c.389T>C	ENSP00000253122.5:p.Phe130Ser
ENST00000430077.6:c.44T>C	ENSP00000403041.2:p.Phe15Ser
ENST00000476466.1:n.241T>C
NM_001142805.1:c.389T>C	NP_001136277.1:p.Phe130Ser
NM_001142806.1:c.44T>C	NP_001136278.1:p.Phe15Ser
NM_005629.3:c.389T>C	NP_005620.1:p.Phe130Ser
NM_005629.4:c.389T>C MANE Select	NP_005620.1:p.Phe130Ser
NM_001142805.2:c.389T>C	NP_001136277.1:p.Phe130Ser