Canonical Allele Identifier: CA112970312

Gene: SLC6A3

Linked Data

• dbSNP Id: rs921973390
• gnomAD v3: 5-1443577-T-G
• gnomAD v4: 5-1443577-T-G
• MyVariant Identifiers: chr5:g.1443692T>G (hg19) ; chr5:g.1443577T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1443577T>G , CM000667.2:g.1443577T>G	GRCh38
NC_000005.9:g.1443692T>G , CM000667.1:g.1443692T>G	GRCh37
NC_000005.8:g.1496692T>G	NCBI36
NG_015885.1:g.6852A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.-45-335A>C MANE Select	ENSP00000270349.9:n.-45-335A>C
ENST00000270349.11:c.-45-335A>C	ENSP00000270349.9:n.-45-335A>C
NM_001044.4:c.-45-335A>C	NP_001035.1:n.-45-335A>C
NM_001044.5:c.-45-335A>C MANE Select	NP_001035.1:n.-45-335A>C