Canonical Allele Identifier: CA2579744208

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690513A>C , CM000685.2:g.153690513A>C	GRCh38
NC_000023.10:g.152955968A>C , CM000685.1:g.152955968A>C	GRCh37
NC_000023.9:g.152609162A>C	NCBI36
NG_012016.1:g.7217A>C
NG_012016.2:g.7217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+7A>C MANE Select	ENSP00000253122.5:n.394+7A>C
ENST00000675713.1:n.148+7A>C
ENST00000253122.9:c.394+7A>C	ENSP00000253122.5:n.394+7A>C
ENST00000430077.6:c.49+7A>C	ENSP00000403041.2:n.49+7A>C
ENST00000476466.1:n.253A>C
NM_001142805.1:c.394+7A>C	NP_001136277.1:n.394+7A>C
NM_001142806.1:c.49+7A>C	NP_001136278.1:n.49+7A>C
NM_005629.3:c.394+7A>C	NP_005620.1:n.394+7A>C
NM_005629.4:c.394+7A>C MANE Select	NP_005620.1:n.394+7A>C
NM_001142805.2:c.394+7A>C	NP_001136277.1:n.394+7A>C