Canonical Allele Identifier: CA415076020

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1557043767
• gnomAD v2: X-152954078-G-C
• gnomAD v4: X-153688623-G-C
• MyVariant Identifiers: chrX:g.152954078G>C (hg19) ; chrX:g.153688623G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688623G>C , CM000685.2:g.153688623G>C	GRCh38
NC_000023.10:g.152954078G>C , CM000685.1:g.152954078G>C	GRCh37
NC_000023.9:g.152607272G>C	NCBI36
NG_012016.1:g.5327G>C
NG_012016.2:g.5327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.49G>C (SLC6A8) MANE Select	ENSP00000253122.5:p.Glu17Gln
ENST00000253122.9:c.49G>C (SLC6A8)	ENSP00000253122.5:p.Glu17Gln
ENST00000458354.5:c.-3+192C>G (PNCK)	ENSP00000401542.1:n.-3+192C>G
ENST00000480693.1:n.64+192C>G (PNCK)
NM_001142805.1:c.49G>C (SLC6A8)	NP_001136277.1:p.Glu17Gln
NM_005629.3:c.49G>C (SLC6A8)	NP_005620.1:p.Glu17Gln
NM_005629.4:c.49G>C (SLC6A8) MANE Select	NP_005620.1:p.Glu17Gln
NM_001142805.2:c.49G>C (SLC6A8)	NP_001136277.1:p.Glu17Gln