Canonical Allele Identifier: CA1072524398

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414438-G-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT
• gnomAD v4: 5-1414438-G-GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414444_1414480dup , CM000667.2:g.1414444_1414480dup	GRCh38
NC_000005.9:g.1414559_1414595dup , CM000667.1:g.1414559_1414595dup	GRCh37
NC_000005.8:g.1467559_1467595dup	NCBI36
NG_015885.1:g.35954_35990dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+216_1156+252dup MANE Select	ENSP00000270349.9:n.1156+216_1156+252dup
ENST00000270349.11:c.1156+216_1156+252dup	ENSP00000270349.9:n.1156+216_1156+252dup
NM_001044.4:c.1156+216_1156+252dup	NP_001035.1:n.1156+216_1156+252dup
NM_001044.5:c.1156+216_1156+252dup MANE Select	NP_001035.1:n.1156+216_1156+252dup