Canonical Allele Identifier: CA1072521853
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414375-C-G
gnomAD v4: 5-1414375-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414375C>G , CM000667.2:g.1414375C>G GRCh38
NC_000005.9:g.1414490C>G , CM000667.1:g.1414490C>G GRCh37
NC_000005.8:g.1467490C>G NCBI36
NG_015885.1:g.36054G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+316G>C MANE Select ENSP00000270349.9:n.1156+316G>C
ENST00000270349.11:c.1156+316G>C ENSP00000270349.9:n.1156+316G>C
NM_001044.4:c.1156+316G>C NP_001035.1:n.1156+316G>C
NM_001044.5:c.1156+316G>C MANE Select NP_001035.1:n.1156+316G>C