Canonical Allele Identifier: CA2579729533

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694300T>C , CM000685.2:g.153694300T>C	GRCh38
NC_000023.10:g.152959755T>C , CM000685.1:g.152959755T>C	GRCh37
NC_000023.9:g.152612949T>C	NCBI36
NG_012016.1:g.11004T>C
NG_012016.2:g.11004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+33T>C MANE Select	ENSP00000253122.5:n.1392+33T>C
ENST00000253122.9:c.1392+33T>C	ENSP00000253122.5:n.1392+33T>C
ENST00000413787.1:c.321+33T>C	ENSP00000400463.1:n.321+33T>C
ENST00000430077.6:c.1047+33T>C	ENSP00000403041.2:n.1047+33T>C
ENST00000442457.1:c.446+33T>C
ENST00000485324.1:n.1570T>C
NM_001142805.1:c.1362+33T>C	NP_001136277.1:n.1362+33T>C
NM_001142806.1:c.1047+33T>C	NP_001136278.1:n.1047+33T>C
NM_005629.3:c.1392+33T>C	NP_005620.1:n.1392+33T>C
NM_005629.4:c.1392+33T>C MANE Select	NP_005620.1:n.1392+33T>C
NM_001142805.2:c.1362+33T>C	NP_001136277.1:n.1362+33T>C