Canonical Allele Identifier: CA415076007

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688620G>A , CM000685.2:g.153688620G>A GRCh38
NC_000023.10:g.152954075G>A , CM000685.1:g.152954075G>A GRCh37
NC_000023.9:g.152607269G>A NCBI36
NG_012016.1:g.5324G>A
NG_012016.2:g.5324G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.46G>A (SLC6A8) MANE Select ENSP00000253122.5:p.Asp16Asn
ENST00000253122.9:c.46G>A (SLC6A8) ENSP00000253122.5:p.Asp16Asn
ENST00000458354.5:c.-3+195C>T (PNCK) ENSP00000401542.1:n.-3+195C>T
ENST00000480693.1:n.64+195C>T (PNCK)
NM_001142805.1:c.46G>A (SLC6A8) NP_001136277.1:p.Asp16Asn
NM_005629.3:c.46G>A (SLC6A8) NP_005620.1:p.Asp16Asn
NM_005629.4:c.46G>A (SLC6A8) MANE Select NP_005620.1:p.Asp16Asn
NM_001142805.2:c.46G>A (SLC6A8) NP_001136277.1:p.Asp16Asn