Canonical Allele Identifier: CA415087684

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694407C>T , CM000685.2:g.153694407C>T	GRCh38
NC_000023.10:g.152959862C>T , CM000685.1:g.152959862C>T	GRCh37
NC_000023.9:g.152613056C>T	NCBI36
NG_012016.1:g.11111C>T
NG_012016.2:g.11111C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1456C>T MANE Select	NP_005620.1:p.Gln486Ter
ENST00000253122.10:c.1456C>T MANE Select	ENSP00000253122.5:p.Gln486Ter
NM_001142805.1:c.1426C>T	NP_001136277.1:p.Gln476Ter
NM_001142805.2:c.1426C>T	NP_001136277.1:p.Gln476Ter
NM_001142806.1:c.1111C>T	NP_001136278.1:p.Gln371Ter
NM_005629.3:c.1456C>T	NP_005620.1:p.Gln486Ter
ENST00000253122.9:c.1456C>T	ENSP00000253122.5:p.Gln486Ter
ENST00000413787.1:c.385C>T	ENSP00000400463.1:p.Gln129Ter
ENST00000430077.6:c.1111C>T	ENSP00000403041.2:p.Gln371Ter
ENST00000442457.1:c.510C>T
ENST00000485324.1:n.1677C>T