Canonical Allele Identifier: CA2740040916

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694317C>T , CM000685.2:g.153694317C>T	GRCh38
NC_000023.10:g.152959772C>T , CM000685.1:g.152959772C>T	GRCh37
NC_000023.9:g.152612966C>T	NCBI36
NG_012016.1:g.11021C>T
NG_012016.2:g.11021C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1393-27C>T MANE Select	ENSP00000253122.5:n.1393-27C>T
ENST00000253122.9:c.1393-27C>T	ENSP00000253122.5:n.1393-27C>T
ENST00000413787.1:c.322-27C>T	ENSP00000400463.1:n.322-27C>T
ENST00000430077.6:c.1048-27C>T	ENSP00000403041.2:n.1048-27C>T
ENST00000442457.1:c.447-27C>T
ENST00000485324.1:n.1587C>T
NM_001142805.1:c.1363-27C>T	NP_001136277.1:n.1363-27C>T
NM_001142806.1:c.1048-27C>T	NP_001136278.1:n.1048-27C>T
NM_005629.3:c.1393-27C>T	NP_005620.1:n.1393-27C>T
NM_005629.4:c.1393-27C>T MANE Select	NP_005620.1:n.1393-27C>T
NM_001142805.2:c.1363-27C>T	NP_001136277.1:n.1363-27C>T