Canonical Allele Identifier: CA415076381

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688702C>G , CM000685.2:g.153688702C>G GRCh38
NC_000023.10:g.152954157C>G , CM000685.1:g.152954157C>G GRCh37
NC_000023.9:g.152607351C>G NCBI36
NG_012016.1:g.5406C>G
NG_012016.2:g.5406C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.128C>G (SLC6A8) MANE Select ENSP00000253122.5:p.Pro43Arg
ENST00000253122.9:c.128C>G (SLC6A8) ENSP00000253122.5:p.Pro43Arg
ENST00000458354.5:c.-3+113G>C (PNCK) ENSP00000401542.1:n.-3+113G>C
ENST00000480693.1:n.64+113G>C (PNCK)
NM_001142805.1:c.128C>G (SLC6A8) NP_001136277.1:p.Pro43Arg
NM_005629.3:c.128C>G (SLC6A8) NP_005620.1:p.Pro43Arg
NM_005629.4:c.128C>G (SLC6A8) MANE Select NP_005620.1:p.Pro43Arg
NM_001142805.2:c.128C>G (SLC6A8) NP_001136277.1:p.Pro43Arg