Canonical Allele Identifier: CA415076857

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688777T>C , CM000685.2:g.153688777T>C GRCh38
NC_000023.10:g.152954232T>C , CM000685.1:g.152954232T>C GRCh37
NC_000023.9:g.152607426T>C NCBI36
NG_012016.1:g.5481T>C
NG_012016.2:g.5481T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.203T>C (SLC6A8) MANE Select ENSP00000253122.5:p.Phe68Ser
ENST00000253122.9:c.203T>C (SLC6A8) ENSP00000253122.5:p.Phe68Ser
ENST00000458354.5:c.-3+38A>G (PNCK) ENSP00000401542.1:n.-3+38A>G
ENST00000476466.1:n.55T>C (SLC6A8)
ENST00000480693.1:n.64+38A>G (PNCK)
NM_001142805.1:c.203T>C (SLC6A8) NP_001136277.1:p.Phe68Ser
NM_005629.3:c.203T>C (SLC6A8) NP_005620.1:p.Phe68Ser
NM_005629.4:c.203T>C (SLC6A8) MANE Select NP_005620.1:p.Phe68Ser
NM_001142805.2:c.203T>C (SLC6A8) NP_001136277.1:p.Phe68Ser