Canonical Allele Identifier: CA112968550

Gene: SLC6A3

Linked Data

• dbSNP Id: rs189510561
• gnomAD v2: 5-1423829-C-G
• gnomAD v3: 5-1423714-C-G
• gnomAD v4: 5-1423714-C-G
• MyVariant Identifiers: chr5:g.1423829C>G (hg19) ; chr5:g.1423714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423714C>G , CM000667.2:g.1423714C>G	GRCh38
NC_000005.9:g.1423829C>G , CM000667.1:g.1423829C>G	GRCh37
NC_000005.8:g.1476829C>G	NCBI36
NG_015885.1:g.26715G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.654-1700G>C MANE Select	ENSP00000270349.9:n.654-1700G>C
ENST00000270349.11:c.654-1700G>C	ENSP00000270349.9:n.654-1700G>C
NM_001044.4:c.654-1700G>C	NP_001035.1:n.654-1700G>C
NM_001044.5:c.654-1700G>C MANE Select	NP_001035.1:n.654-1700G>C