Canonical Allele Identifier: CA2695038629

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690332-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690332G>C , CM000685.2:g.153690332G>C	GRCh38
NC_000023.10:g.152955787G>C , CM000685.1:g.152955787G>C	GRCh37
NC_000023.9:g.152608981G>C	NCBI36
NG_012016.1:g.7036G>C
NG_012016.2:g.7036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.263-43G>C MANE Select	ENSP00000253122.5:n.263-43G>C
ENST00000253122.9:c.263-43G>C	ENSP00000253122.5:n.263-43G>C
ENST00000430077.6:c.-83-43G>C	ENSP00000403041.2:n.-83-43G>C
ENST00000476466.1:n.115-43G>C
NM_001142805.1:c.263-43G>C	NP_001136277.1:n.263-43G>C
NM_001142806.1:c.-83-43G>C	NP_001136278.1:n.-83-43G>C
NM_005629.3:c.263-43G>C	NP_005620.1:n.263-43G>C
NM_005629.4:c.263-43G>C MANE Select	NP_005620.1:n.263-43G>C
NM_001142805.2:c.263-43G>C	NP_001136277.1:n.263-43G>C