Canonical Allele Identifier: CA415086202
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693928T>G , CM000685.2:g.153693928T>G GRCh38
NC_000023.10:g.152959383T>G , CM000685.1:g.152959383T>G GRCh37
NC_000023.9:g.152612577T>G NCBI36
NG_012016.1:g.10632T>G
NG_012016.2:g.10632T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1165T>G MANE Select ENSP00000253122.5:p.Tyr389Asp
ENST00000253122.9:c.1165T>G ENSP00000253122.5:p.Tyr389Asp
ENST00000413787.1:c.258-276T>G ENSP00000400463.1:n.258-276T>G
ENST00000430077.6:c.820T>G ENSP00000403041.2:p.Tyr274Asp
ENST00000442457.1:c.219T>G
ENST00000457723.1:c.149T>G ENSP00000394742.1:p.Leu50Arg
ENST00000467402.1:n.264T>G
ENST00000485324.1:n.1198T>G
NM_001142805.1:c.1135T>G NP_001136277.1:p.Tyr379Asp
NM_001142806.1:c.820T>G NP_001136278.1:p.Tyr274Asp
NM_005629.3:c.1165T>G NP_005620.1:p.Tyr389Asp
NM_005629.4:c.1165T>G MANE Select NP_005620.1:p.Tyr389Asp
NM_001142805.2:c.1135T>G NP_001136277.1:p.Tyr379Asp