Canonical Allele Identifier: CA415076422

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688708G>T , CM000685.2:g.153688708G>T GRCh38
NC_000023.10:g.152954163G>T , CM000685.1:g.152954163G>T GRCh37
NC_000023.9:g.152607357G>T NCBI36
NG_012016.1:g.5412G>T
NG_012016.2:g.5412G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.134G>T (SLC6A8) MANE Select ENSP00000253122.5:p.Gly45Val
ENST00000253122.9:c.134G>T (SLC6A8) ENSP00000253122.5:p.Gly45Val
ENST00000458354.5:c.-3+107C>A (PNCK) ENSP00000401542.1:n.-3+107C>A
ENST00000480693.1:n.64+107C>A (PNCK)
NM_001142805.1:c.134G>T (SLC6A8) NP_001136277.1:p.Gly45Val
NM_005629.3:c.134G>T (SLC6A8) NP_005620.1:p.Gly45Val
NM_005629.4:c.134G>T (SLC6A8) MANE Select NP_005620.1:p.Gly45Val
NM_001142805.2:c.134G>T (SLC6A8) NP_001136277.1:p.Gly45Val