Canonical Allele Identifier: CA415086888

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959666T>C (hg19) ; chrX:g.153694211T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694211T>C , CM000685.2:g.153694211T>C	GRCh38
NC_000023.10:g.152959666T>C , CM000685.1:g.152959666T>C	GRCh37
NC_000023.9:g.152612860T>C	NCBI36
NG_012016.1:g.10915T>C
NG_012016.2:g.10915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1336T>C MANE Select	ENSP00000253122.5:p.Ser446Pro
ENST00000253122.9:c.1336T>C	ENSP00000253122.5:p.Ser446Pro
ENST00000413787.1:c.265T>C	ENSP00000400463.1:p.Ser89Pro
ENST00000430077.6:c.991T>C	ENSP00000403041.2:p.Ser331Pro
ENST00000442457.1:c.390T>C
ENST00000485324.1:n.1481T>C
NM_001142805.1:c.1306T>C	NP_001136277.1:p.Ser436Pro
NM_001142806.1:c.991T>C	NP_001136278.1:p.Ser331Pro
NM_005629.3:c.1336T>C	NP_005620.1:p.Ser446Pro
NM_005629.4:c.1336T>C MANE Select	NP_005620.1:p.Ser446Pro
NM_001142805.2:c.1306T>C	NP_001136277.1:p.Ser436Pro