Canonical Allele Identifier: CA557566093

Gene: SLC6A3

Linked Data

• dbSNP Id: rs977340146
• gnomAD v2: 5-1414630-G-C
• gnomAD v3: 5-1414515-G-C
• gnomAD v4: 5-1414515-G-C
• MyVariant Identifiers: chr5:g.1414630G>C (hg19) ; chr5:g.1414515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414515G>C , CM000667.2:g.1414515G>C	GRCh38
NC_000005.9:g.1414630G>C , CM000667.1:g.1414630G>C	GRCh37
NC_000005.8:g.1467630G>C	NCBI36
NG_015885.1:g.35914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+176C>G MANE Select	ENSP00000270349.9:n.1156+176C>G
ENST00000270349.11:c.1156+176C>G	ENSP00000270349.9:n.1156+176C>G
NM_001044.4:c.1156+176C>G	NP_001035.1:n.1156+176C>G
NM_001044.5:c.1156+176C>G MANE Select	NP_001035.1:n.1156+176C>G