Canonical Allele Identifier: CA359060822
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1430768639
gnomAD v2: 5-1432726-G-C
gnomAD v4: 5-1432611-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1432611G>C , CM000667.2:g.1432611G>C GRCh38
NC_000005.9:g.1432726G>C , CM000667.1:g.1432726G>C GRCh37
NC_000005.8:g.1485726G>C NCBI36
NG_015885.1:g.17818C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.506C>G MANE Select ENSP00000270349.9:p.Ser169Cys
ENST00000270349.11:c.506C>G ENSP00000270349.9:p.Ser169Cys
NM_001044.4:c.506C>G NP_001035.1:p.Ser169Cys
NM_001044.5:c.506C>G MANE Select NP_001035.1:p.Ser169Cys