Canonical Allele Identifier: CA2695038895

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690519-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690519T>C , CM000685.2:g.153690519T>C	GRCh38
NC_000023.10:g.152955974T>C , CM000685.1:g.152955974T>C	GRCh37
NC_000023.9:g.152609168T>C	NCBI36
NG_012016.1:g.7223T>C
NG_012016.2:g.7223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+13T>C MANE Select	ENSP00000253122.5:n.394+13T>C
ENST00000675713.1:n.148+13T>C
ENST00000253122.9:c.394+13T>C	ENSP00000253122.5:n.394+13T>C
ENST00000430077.6:c.49+13T>C	ENSP00000403041.2:n.49+13T>C
ENST00000476466.1:n.259T>C
NM_001142805.1:c.394+13T>C	NP_001136277.1:n.394+13T>C
NM_001142806.1:c.49+13T>C	NP_001136278.1:n.49+13T>C
NM_005629.3:c.394+13T>C	NP_005620.1:n.394+13T>C
NM_005629.4:c.394+13T>C MANE Select	NP_005620.1:n.394+13T>C
NM_001142805.2:c.394+13T>C	NP_001136277.1:n.394+13T>C