Canonical Allele Identifier: CA415078043

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690495-C-T
• MyVariant Identifiers: chrX:g.152955950C>T (hg19) ; chrX:g.153690495C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690495C>T , CM000685.2:g.153690495C>T	GRCh38
NC_000023.10:g.152955950C>T , CM000685.1:g.152955950C>T	GRCh37
NC_000023.9:g.152609144C>T	NCBI36
NG_012016.1:g.7199C>T
NG_012016.2:g.7199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.383C>T MANE Select	ENSP00000253122.5:p.Pro128Leu
ENST00000675713.1:n.137C>T
ENST00000253122.9:c.383C>T	ENSP00000253122.5:p.Pro128Leu
ENST00000430077.6:c.38C>T	ENSP00000403041.2:p.Pro13Leu
ENST00000476466.1:n.235C>T
NM_001142805.1:c.383C>T	NP_001136277.1:p.Pro128Leu
NM_001142806.1:c.38C>T	NP_001136278.1:p.Pro13Leu
NM_005629.3:c.383C>T	NP_005620.1:p.Pro128Leu
NM_005629.4:c.383C>T MANE Select	NP_005620.1:p.Pro128Leu
NM_001142805.2:c.383C>T	NP_001136277.1:p.Pro128Leu