Canonical Allele Identifier: CA415087013

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694240-T-G
• MyVariant Identifiers: chrX:g.152959695T>G (hg19) ; chrX:g.153694240T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694240T>G , CM000685.2:g.153694240T>G	GRCh38
NC_000023.10:g.152959695T>G , CM000685.1:g.152959695T>G	GRCh37
NC_000023.9:g.152612889T>G	NCBI36
NG_012016.1:g.10944T>G
NG_012016.2:g.10944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1365T>G MANE Select	ENSP00000253122.5:p.Phe455Leu
ENST00000253122.9:c.1365T>G	ENSP00000253122.5:p.Phe455Leu
ENST00000413787.1:c.294T>G	ENSP00000400463.1:p.Phe98Leu
ENST00000430077.6:c.1020T>G	ENSP00000403041.2:p.Phe340Leu
ENST00000442457.1:c.419T>G
ENST00000485324.1:n.1510T>G
NM_001142805.1:c.1335T>G	NP_001136277.1:p.Phe445Leu
NM_001142806.1:c.1020T>G	NP_001136278.1:p.Phe340Leu
NM_005629.3:c.1365T>G	NP_005620.1:p.Phe455Leu
NM_005629.4:c.1365T>G MANE Select	NP_005620.1:p.Phe455Leu
NM_001142805.2:c.1335T>G	NP_001136277.1:p.Phe445Leu