Canonical Allele Identifier: CA112970977

Gene: SLC6A3

Linked Data

• dbSNP Id: rs549561509
• gnomAD v2: 5-1444514-C-T
• gnomAD v3: 5-1444399-C-T
• gnomAD v4: 5-1444399-C-T
• MyVariant Identifiers: chr5:g.1444514C>T (hg19) ; chr5:g.1444399C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1444399C>T , CM000667.2:g.1444399C>T	GRCh38
NC_000005.9:g.1444514C>T , CM000667.1:g.1444514C>T	GRCh37
NC_000005.8:g.1497514C>T	NCBI36
NG_015885.1:g.6030G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-46+949G>A MANE Select	ENSP00000270349.9:n.-46+949G>A
ENST00000270349.11:c.-46+949G>A	ENSP00000270349.9:n.-46+949G>A
NM_001044.4:c.-46+949G>A	NP_001035.1:n.-46+949G>A
NM_001044.5:c.-46+949G>A MANE Select	NP_001035.1:n.-46+949G>A