Canonical Allele Identifier: CA415077567

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690428-T-C
• MyVariant Identifiers: chrX:g.152955883T>C (hg19) ; chrX:g.153690428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690428T>C , CM000685.2:g.153690428T>C	GRCh38
NC_000023.10:g.152955883T>C , CM000685.1:g.152955883T>C	GRCh37
NC_000023.9:g.152609077T>C	NCBI36
NG_012016.1:g.7132T>C
NG_012016.2:g.7132T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.316T>C MANE Select	ENSP00000253122.5:p.Phe106Leu
ENST00000675713.1:n.70T>C
ENST00000253122.9:c.316T>C	ENSP00000253122.5:p.Phe106Leu
ENST00000430077.6:c.-30T>C	ENSP00000403041.2:n.-30T>C
ENST00000476466.1:n.168T>C
NM_001142805.1:c.316T>C	NP_001136277.1:p.Phe106Leu
NM_001142806.1:c.-30T>C	NP_001136278.1:n.-30T>C
NM_005629.3:c.316T>C	NP_005620.1:p.Phe106Leu
NM_005629.4:c.316T>C MANE Select	NP_005620.1:p.Phe106Leu
NM_001142805.2:c.316T>C	NP_001136277.1:p.Phe106Leu