Canonical Allele Identifier: CA415087231

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694347G>C , CM000685.2:g.153694347G>C	GRCh38
NC_000023.10:g.152959802G>C , CM000685.1:g.152959802G>C	GRCh37
NC_000023.9:g.152612996G>C	NCBI36
NG_012016.1:g.11051G>C
NG_012016.2:g.11051G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1396G>C MANE Select	NP_005620.1:p.Gly466Arg
ENST00000253122.10:c.1396G>C MANE Select	ENSP00000253122.5:p.Gly466Arg
NM_001142805.1:c.1366G>C	NP_001136277.1:p.Gly456Arg
NM_001142805.2:c.1366G>C	NP_001136277.1:p.Gly456Arg
NM_001142806.1:c.1051G>C	NP_001136278.1:p.Gly351Arg
NM_005629.3:c.1396G>C	NP_005620.1:p.Gly466Arg
ENST00000253122.9:c.1396G>C	ENSP00000253122.5:p.Gly466Arg
ENST00000413787.1:c.325G>C	ENSP00000400463.1:p.Gly109Arg
ENST00000430077.6:c.1051G>C	ENSP00000403041.2:p.Gly351Arg
ENST00000442457.1:c.450G>C
ENST00000485324.1:n.1617G>C