Canonical Allele Identifier: CA415086834

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959656A>C (hg19) ; chrX:g.153694201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694201A>C , CM000685.2:g.153694201A>C	GRCh38
NC_000023.10:g.152959656A>C , CM000685.1:g.152959656A>C	GRCh37
NC_000023.9:g.152612850A>C	NCBI36
NG_012016.1:g.10905A>C
NG_012016.2:g.10905A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1326A>C MANE Select	ENSP00000253122.5:p.Gln442His
ENST00000253122.9:c.1326A>C	ENSP00000253122.5:p.Gln442His
ENST00000413787.1:c.258-3A>C	ENSP00000400463.1:n.258-3A>C
ENST00000430077.6:c.981A>C	ENSP00000403041.2:p.Gln327His
ENST00000442457.1:c.380A>C
ENST00000485324.1:n.1471A>C
NM_001142805.1:c.1296A>C	NP_001136277.1:p.Gln432His
NM_001142806.1:c.981A>C	NP_001136278.1:p.Gln327His
NM_005629.3:c.1326A>C	NP_005620.1:p.Gln442His
NM_005629.4:c.1326A>C MANE Select	NP_005620.1:p.Gln442His
NM_001142805.2:c.1296A>C	NP_001136277.1:p.Gln432His