Canonical Allele Identifier: CA3186138

Gene: SLC6A3

Linked Data

• dbSNP Id: rs774074306
• ExAC: 5:1414774 G / T
• gnomAD v2: 5-1414774-G-T
• gnomAD v3: 5-1414659-G-T
• gnomAD v4: 5-1414659-G-T
• MyVariant Identifiers: chr5:g.1414774G>T (hg19) ; chr5:g.1414659G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414659G>T , CM000667.2:g.1414659G>T	GRCh38
NC_000005.9:g.1414774G>T , CM000667.1:g.1414774G>T	GRCh37
NC_000005.8:g.1467774G>T	NCBI36
NG_015885.1:g.35770C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.1156+32C>A MANE Select	ENSP00000270349.9:n.1156+32C>A
ENST00000270349.11:c.1156+32C>A	ENSP00000270349.9:n.1156+32C>A
NM_001044.4:c.1156+32C>A	NP_001035.1:n.1156+32C>A
NM_001044.5:c.1156+32C>A MANE Select	NP_001035.1:n.1156+32C>A