Canonical Allele Identifier: CA415078059

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690498-T-C
• MyVariant Identifiers: chrX:g.152955953T>C (hg19) ; chrX:g.153690498T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690498T>C , CM000685.2:g.153690498T>C	GRCh38
NC_000023.10:g.152955953T>C , CM000685.1:g.152955953T>C	GRCh37
NC_000023.9:g.152609147T>C	NCBI36
NG_012016.1:g.7202T>C
NG_012016.2:g.7202T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.386T>C MANE Select	ENSP00000253122.5:p.Leu129Pro
ENST00000675713.1:n.140T>C
ENST00000253122.9:c.386T>C	ENSP00000253122.5:p.Leu129Pro
ENST00000430077.6:c.41T>C	ENSP00000403041.2:p.Leu14Pro
ENST00000476466.1:n.238T>C
NM_001142805.1:c.386T>C	NP_001136277.1:p.Leu129Pro
NM_001142806.1:c.41T>C	NP_001136278.1:p.Leu14Pro
NM_005629.3:c.386T>C	NP_005620.1:p.Leu129Pro
NM_005629.4:c.386T>C MANE Select	NP_005620.1:p.Leu129Pro
NM_001142805.2:c.386T>C	NP_001136277.1:p.Leu129Pro