Canonical Allele Identifier: CA557561135
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1242555776
gnomAD v2: 5-1394328-G-A
gnomAD v3: 5-1394213-G-A
gnomAD v4: 5-1394213-G-A
MyVariant Identifiers: chr5:g.1394328G>A (hg19) chr5:g.1394213G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394213G>A , CM000667.2:g.1394213G>A GRCh38
NC_000005.9:g.1394328G>A , CM000667.1:g.1394328G>A GRCh37
NC_000005.8:g.1447328G>A NCBI36
NG_015885.1:g.56216C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*522C>T MANE Select ENSP00000270349.9:n.*522C>T
ENST00000270349.11:c.*522C>T ENSP00000270349.9:n.*522C>T
ENST00000512002.2:n.766C>T
NM_001044.4:c.*522C>T NP_001035.1:n.*522C>T
NM_001044.5:c.*522C>T MANE Select NP_001035.1:n.*522C>T
Search 100 bp 5'
Search 100 bp 3'