Canonical Allele Identifier: CA415076485
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 658337
ClinVar RCV Id: RCV000815145
dbSNP Id: rs1463935788
MyVariant Identifiers: chrX:g.152954174G>C (hg19) chrX:g.153688719G>C (hg38)
ERepo: CA415076485/MONDO:0010305/027
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688719G>C , CM000685.2:g.153688719G>C GRCh38
NC_000023.10:g.152954174G>C , CM000685.1:g.152954174G>C GRCh37
NC_000023.9:g.152607368G>C NCBI36
NG_012016.1:g.5423G>C
NG_012016.2:g.5423G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.145G>C (SLC6A8) MANE Select ENSP00000253122.5:p.Val49Leu
ENST00000253122.9:c.145G>C (SLC6A8) ENSP00000253122.5:p.Val49Leu
ENST00000458354.5:c.-3+96C>G (PNCK) ENSP00000401542.1:n.-3+96C>G
ENST00000480693.1:n.64+96C>G (PNCK)
NM_001142805.1:c.145G>C (SLC6A8) NP_001136277.1:p.Val49Leu
NM_005629.3:c.145G>C (SLC6A8) NP_005620.1:p.Val49Leu
NM_005629.4:c.145G>C (SLC6A8) MANE Select NP_005620.1:p.Val49Leu
NM_001142805.2:c.145G>C (SLC6A8) NP_001136277.1:p.Val49Leu
Search 100 bp 5'
Search 100 bp 3'