Canonical Allele Identifier: CA2579744200

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690322T>A , CM000685.2:g.153690322T>A	GRCh38
NC_000023.10:g.152955777T>A , CM000685.1:g.152955777T>A	GRCh37
NC_000023.9:g.152608971T>A	NCBI36
NG_012016.1:g.7026T>A
NG_012016.2:g.7026T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.263-53T>A MANE Select	ENSP00000253122.5:n.263-53T>A
ENST00000253122.9:c.263-53T>A	ENSP00000253122.5:n.263-53T>A
ENST00000430077.6:c.-83-53T>A	ENSP00000403041.2:n.-83-53T>A
ENST00000476466.1:n.115-53T>A
NM_001142805.1:c.263-53T>A	NP_001136277.1:n.263-53T>A
NM_001142806.1:c.-83-53T>A	NP_001136278.1:n.-83-53T>A
NM_005629.3:c.263-53T>A	NP_005620.1:n.263-53T>A
NM_005629.4:c.263-53T>A MANE Select	NP_005620.1:n.263-53T>A
NM_001142805.2:c.263-53T>A	NP_001136277.1:n.263-53T>A