Canonical Allele Identifier: CA415078117

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690506-G-T
• MyVariant Identifiers: chrX:g.152955961G>T (hg19) ; chrX:g.153690506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690506G>T , CM000685.2:g.153690506G>T	GRCh38
NC_000023.10:g.152955961G>T , CM000685.1:g.152955961G>T	GRCh37
NC_000023.9:g.152609155G>T	NCBI36
NG_012016.1:g.7210G>T
NG_012016.2:g.7210G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394G>T MANE Select	ENSP00000253122.5:p.Gly132Cys
ENST00000675713.1:n.148G>T
ENST00000253122.9:c.394G>T	ENSP00000253122.5:p.Gly132Cys
ENST00000430077.6:c.49G>T	ENSP00000403041.2:p.Gly17Cys
ENST00000476466.1:n.246G>T
NM_001142805.1:c.394G>T	NP_001136277.1:p.Gly132Cys
NM_001142806.1:c.49G>T	NP_001136278.1:p.Gly17Cys
NM_005629.3:c.394G>T	NP_005620.1:p.Gly132Cys
NM_005629.4:c.394G>T MANE Select	NP_005620.1:p.Gly132Cys
NM_001142805.2:c.394G>T	NP_001136277.1:p.Gly132Cys