Canonical Allele Identifier: CA415087042

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557045422
• gnomAD v2: X-152959702-G-A
• gnomAD v4: X-153694247-G-A
• MyVariant Identifiers: chrX:g.152959702G>A (hg19) ; chrX:g.153694247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694247G>A , CM000685.2:g.153694247G>A	GRCh38
NC_000023.10:g.152959702G>A , CM000685.1:g.152959702G>A	GRCh37
NC_000023.9:g.152612896G>A	NCBI36
NG_012016.1:g.10951G>A
NG_012016.2:g.10951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1372G>A MANE Select	ENSP00000253122.5:p.Asp458Asn
ENST00000253122.9:c.1372G>A	ENSP00000253122.5:p.Asp458Asn
ENST00000413787.1:c.301G>A	ENSP00000400463.1:p.Asp101Asn
ENST00000430077.6:c.1027G>A	ENSP00000403041.2:p.Asp343Asn
ENST00000442457.1:c.426G>A
ENST00000485324.1:n.1517G>A
NM_001142805.1:c.1342G>A	NP_001136277.1:p.Asp448Asn
NM_001142806.1:c.1027G>A	NP_001136278.1:p.Asp343Asn
NM_005629.3:c.1372G>A	NP_005620.1:p.Asp458Asn
NM_005629.4:c.1372G>A MANE Select	NP_005620.1:p.Asp458Asn
NM_001142805.2:c.1342G>A	NP_001136277.1:p.Asp448Asn