Canonical Allele Identifier: CA873270614

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1314287595
• gnomAD v3: X-153688510-C-G
• gnomAD v4: X-153688510-C-G
• MyVariant Identifiers: chrX:g.153688510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688510C>G , CM000685.2:g.153688510C>G	GRCh38
NC_000023.10:g.152953965C>G , CM000685.1:g.152953965C>G	GRCh37
NC_000023.9:g.152607159C>G	NCBI36
NG_012016.1:g.5214C>G
NG_012016.2:g.5214C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-65C>G (SLC6A8) MANE Select	ENSP00000253122.5:n.-65C>G
ENST00000253122.9:c.-65C>G (SLC6A8)	ENSP00000253122.5:n.-65C>G
ENST00000458354.5:c.-3+305G>C (PNCK)	ENSP00000401542.1:n.-3+305G>C
ENST00000480693.1:n.64+305G>C (PNCK)
NM_001142805.1:c.-65C>G (SLC6A8)	NP_001136277.1:n.-65C>G
NM_005629.3:c.-65C>G (SLC6A8)	NP_005620.1:n.-65C>G
NM_005629.4:c.-65C>G (SLC6A8) MANE Select	NP_005620.1:n.-65C>G
NM_001142805.2:c.-65C>G (SLC6A8)	NP_001136277.1:n.-65C>G