Canonical Allele Identifier: CA359083764
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v4: 5-1416098-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1416098C>G , CM000667.2:g.1416098C>G GRCh38
NC_000005.9:g.1416213C>G , CM000667.1:g.1416213C>G GRCh37
NC_000005.8:g.1469213C>G NCBI36
NG_015885.1:g.34331G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.1031G>C MANE Select ENSP00000270349.9:p.Arg344Thr
ENST00000270349.11:c.1031G>C ENSP00000270349.9:p.Arg344Thr
ENST00000511750.1:n.481G>C
NM_001044.4:c.1031G>C NP_001035.1:p.Arg344Thr
NM_001044.5:c.1031G>C MANE Select NP_001035.1:p.Arg344Thr