Canonical Allele Identifier: CA1072522177

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756206652
• gnomAD v3: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGT
• gnomAD v4: 5-1414399-G-GGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCACTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414408_1414445dup , CM000667.2:g.1414408_1414445dup	GRCh38
NC_000005.9:g.1414523_1414560dup , CM000667.1:g.1414523_1414560dup	GRCh37
NC_000005.8:g.1467523_1467560dup	NCBI36
NG_015885.1:g.35992_36029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+254_1156+291dup MANE Select	ENSP00000270349.9:n.1156+254_1156+291dup
ENST00000270349.11:c.1156+254_1156+291dup	ENSP00000270349.9:n.1156+254_1156+291dup
NM_001044.4:c.1156+254_1156+291dup	NP_001035.1:n.1156+254_1156+291dup
NM_001044.5:c.1156+254_1156+291dup MANE Select	NP_001035.1:n.1156+254_1156+291dup