Canonical Allele Identifier: CA557561155
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1378203444
gnomAD v2: 5-1394484-C-T
gnomAD v3: 5-1394369-C-T
gnomAD v4: 5-1394369-C-T
MyVariant Identifiers: chr5:g.1394484C>T (hg19) chr5:g.1394369C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394369C>T , CM000667.2:g.1394369C>T GRCh38
NC_000005.9:g.1394484C>T , CM000667.1:g.1394484C>T GRCh37
NC_000005.8:g.1447484C>T NCBI36
NG_015885.1:g.56060G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*366G>A MANE Select ENSP00000270349.9:n.*366G>A
ENST00000270349.11:c.*366G>A ENSP00000270349.9:n.*366G>A
ENST00000512002.2:n.610G>A
NM_001044.4:c.*366G>A NP_001035.1:n.*366G>A
NM_001044.5:c.*366G>A MANE Select NP_001035.1:n.*366G>A
Search 100 bp 5'
Search 100 bp 3'