Canonical Allele Identifier: CA415085720

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693553C>T , CM000685.2:g.153693553C>T	GRCh38
NC_000023.10:g.152959008C>T , CM000685.1:g.152959008C>T	GRCh37
NC_000023.9:g.152612202C>T	NCBI36
NG_012016.1:g.10257C>T
NG_012016.2:g.10257C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1108C>T MANE Select	NP_005620.1:p.Gln370Ter
ENST00000253122.10:c.1108C>T MANE Select	ENSP00000253122.5:p.Gln370Ter
NM_001142805.1:c.1078C>T	NP_001136277.1:p.Gln360Ter
NM_001142805.2:c.1078C>T	NP_001136277.1:p.Gln360Ter
NM_001142806.1:c.763C>T	NP_001136278.1:p.Gln255Ter
NM_005629.3:c.1108C>T	NP_005620.1:p.Gln370Ter
ENST00000253122.9:c.1108C>T	ENSP00000253122.5:p.Gln370Ter
ENST00000413787.1:c.224C>T	ENSP00000400463.1:p.Ala75Val
ENST00000430077.6:c.763C>T	ENSP00000403041.2:p.Gln255Ter
ENST00000442457.1:c.162C>T
ENST00000457723.1:c.92C>T	ENSP00000394742.1:p.Ala31Val
ENST00000467402.1:n.207C>T
ENST00000485324.1:n.1141C>T