Canonical Allele Identifier: CA415076636

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688744-G-C
• MyVariant Identifiers: chrX:g.152954199G>C (hg19) ; chrX:g.153688744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688744G>C , CM000685.2:g.153688744G>C	GRCh38
NC_000023.10:g.152954199G>C , CM000685.1:g.152954199G>C	GRCh37
NC_000023.9:g.152607393G>C	NCBI36
NG_012016.1:g.5448G>C
NG_012016.2:g.5448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.170G>C (SLC6A8) MANE Select	ENSP00000253122.5:p.Arg57Pro
ENST00000253122.9:c.170G>C (SLC6A8)	ENSP00000253122.5:p.Arg57Pro
ENST00000458354.5:c.-3+71C>G (PNCK)	ENSP00000401542.1:n.-3+71C>G
ENST00000476466.1:n.22G>C (SLC6A8)
ENST00000480693.1:n.64+71C>G (PNCK)
NM_001142805.1:c.170G>C (SLC6A8)	NP_001136277.1:p.Arg57Pro
NM_005629.3:c.170G>C (SLC6A8)	NP_005620.1:p.Arg57Pro
NM_005629.4:c.170G>C (SLC6A8) MANE Select	NP_005620.1:p.Arg57Pro
NM_001142805.2:c.170G>C (SLC6A8)	NP_001136277.1:p.Arg57Pro