Canonical Allele Identifier: CA557569362

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1243376363
• gnomAD v2: 5-1423849-A-C
• gnomAD v3: 5-1423734-A-C
• gnomAD v4: 5-1423734-A-C
• MyVariant Identifiers: chr5:g.1423849A>C (hg19) ; chr5:g.1423734A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423734A>C , CM000667.2:g.1423734A>C	GRCh38
NC_000005.9:g.1423849A>C , CM000667.1:g.1423849A>C	GRCh37
NC_000005.8:g.1476849A>C	NCBI36
NG_015885.1:g.26695T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.654-1720T>G MANE Select	ENSP00000270349.9:n.654-1720T>G
ENST00000270349.11:c.654-1720T>G	ENSP00000270349.9:n.654-1720T>G
NM_001044.4:c.654-1720T>G	NP_001035.1:n.654-1720T>G
NM_001044.5:c.654-1720T>G MANE Select	NP_001035.1:n.654-1720T>G