Canonical Allele Identifier: CA649598683
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1213421234
gnomAD v3: 5-1423805-G-A
gnomAD v4: 5-1423805-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423805G>A , CM000667.2:g.1423805G>A GRCh38
NC_000005.9:g.1423920G>A , CM000667.1:g.1423920G>A GRCh37
NC_000005.8:g.1476920G>A NCBI36
NG_015885.1:g.26624C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1791C>T MANE Select ENSP00000270349.9:n.654-1791C>T
ENST00000270349.11:c.654-1791C>T ENSP00000270349.9:n.654-1791C>T
NM_001044.4:c.654-1791C>T NP_001035.1:n.654-1791C>T
NM_001044.5:c.654-1791C>T MANE Select NP_001035.1:n.654-1791C>T