Canonical Allele Identifier: CA10549163

Gene: SLC6A8 PNCK

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688778C>T , CM000685.2:g.153688778C>T	GRCh38
NC_000023.10:g.152954233C>T , CM000685.1:g.152954233C>T	GRCh37
NC_000023.9:g.152607427C>T	NCBI36
NG_012016.1:g.5482C>T
NG_012016.2:g.5482C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.204C>T (SLC6A8) MANE Select	NP_005620.1:p.Phe68=
ENST00000253122.10:c.204C>T (SLC6A8) MANE Select	ENSP00000253122.5:p.Phe68=
NM_001142805.1:c.204C>T (SLC6A8)	NP_001136277.1:p.Phe68=
NM_001142805.2:c.204C>T (SLC6A8)	NP_001136277.1:p.Phe68=
NM_005629.3:c.204C>T (SLC6A8)	NP_005620.1:p.Phe68=
ENST00000253122.9:c.204C>T (SLC6A8)	ENSP00000253122.5:p.Phe68=
ENST00000458354.5:c.-3+37G>A (PNCK)	ENSP00000401542.1:n.-3+37G>A
ENST00000476466.1:n.56C>T (SLC6A8)
ENST00000480693.1:n.64+37G>A (PNCK)