Canonical Allele Identifier: CA415084348

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693177T>G , CM000685.2:g.153693177T>G	GRCh38
NC_000023.10:g.152958632T>G , CM000685.1:g.152958632T>G	GRCh37
NC_000023.9:g.152611826T>G	NCBI36
NG_012016.1:g.9881T>G
NG_012016.2:g.9881T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.912+2T>G MANE Select	NP_005620.1:n.912+2T>G
ENST00000253122.10:c.912+2T>G MANE Select	ENSP00000253122.5:n.912+2T>G
NM_001142805.1:c.912+2T>G	NP_001136277.1:n.912+2T>G
NM_001142805.2:c.912+2T>G	NP_001136277.1:n.912+2T>G
NM_001142806.1:c.567+2T>G	NP_001136278.1:n.567+2T>G
NM_005629.3:c.912+2T>G	NP_005620.1:n.912+2T>G
ENST00000253122.9:c.912+2T>G	ENSP00000253122.5:n.912+2T>G
ENST00000413787.1:c.122+2T>G	ENSP00000400463.1:n.122+2T>G
ENST00000430077.6:c.567+2T>G	ENSP00000403041.2:n.567+2T>G
ENST00000467402.1:n.146-315T>G
ENST00000485324.1:n.945+2T>G