Canonical Allele Identifier: CA112958536

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1033029975
• gnomAD v3: 5-1428052-T-C
• gnomAD v4: 5-1428052-T-C
• MyVariant Identifiers: chr5:g.1428167T>C (hg19) ; chr5:g.1428052T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1428052T>C , CM000667.2:g.1428052T>C	GRCh38
NC_000005.9:g.1428167T>C , CM000667.1:g.1428167T>C	GRCh37
NC_000005.8:g.1481167T>C	NCBI36
NG_015885.1:g.22377A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.653+4412A>G MANE Select	ENSP00000270349.9:n.653+4412A>G
ENST00000270349.11:c.653+4412A>G	ENSP00000270349.9:n.653+4412A>G
NM_001044.4:c.653+4412A>G	NP_001035.1:n.653+4412A>G
NM_001044.5:c.653+4412A>G MANE Select	NP_001035.1:n.653+4412A>G