Canonical Allele Identifier: CA804913609

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1280927656
• gnomAD v3: 5-1430887-C-A
• gnomAD v4: 5-1430887-C-A
• MyVariant Identifiers: chr5:g.1431002C>A (hg19) ; chr5:g.1430887C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1430887C>A , CM000667.2:g.1430887C>A	GRCh38
NC_000005.9:g.1431002C>A , CM000667.1:g.1431002C>A	GRCh37
NC_000005.8:g.1484002C>A	NCBI36
NG_015885.1:g.19542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.653+1577G>T MANE Select	ENSP00000270349.9:n.653+1577G>T
ENST00000270349.11:c.653+1577G>T	ENSP00000270349.9:n.653+1577G>T
NM_001044.4:c.653+1577G>T	NP_001035.1:n.653+1577G>T
NM_001044.5:c.653+1577G>T MANE Select	NP_001035.1:n.653+1577G>T