Canonical Allele Identifier: CA112968631

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1049811464
• gnomAD v3: 5-1423852-G-A
• gnomAD v4: 5-1423852-G-A
• MyVariant Identifiers: chr5:g.1423967G>A (hg19) ; chr5:g.1423852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1423852G>A , CM000667.2:g.1423852G>A	GRCh38
NC_000005.9:g.1423967G>A , CM000667.1:g.1423967G>A	GRCh37
NC_000005.8:g.1476967G>A	NCBI36
NG_015885.1:g.26577C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.654-1838C>T MANE Select	ENSP00000270349.9:n.654-1838C>T
ENST00000270349.11:c.654-1838C>T	ENSP00000270349.9:n.654-1838C>T
NM_001044.4:c.654-1838C>T	NP_001035.1:n.654-1838C>T
NM_001044.5:c.654-1838C>T MANE Select	NP_001035.1:n.654-1838C>T