Canonical Allele Identifier: CA557566424
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1349493196
gnomAD v2: 5-1414783-C-A
gnomAD v4: 5-1414668-C-A
MyVariant Identifiers: chr5:g.1414783C>A (hg19) chr5:g.1414668C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414668C>A , CM000667.2:g.1414668C>A GRCh38
NC_000005.9:g.1414783C>A , CM000667.1:g.1414783C>A GRCh37
NC_000005.8:g.1467783C>A NCBI36
NG_015885.1:g.35761G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+23G>T MANE Select ENSP00000270349.9:n.1156+23G>T
ENST00000270349.11:c.1156+23G>T ENSP00000270349.9:n.1156+23G>T
NM_001044.4:c.1156+23G>T NP_001035.1:n.1156+23G>T
NM_001044.5:c.1156+23G>T MANE Select NP_001035.1:n.1156+23G>T
Search 100 bp 5'
Search 100 bp 3'