Canonical Allele Identifier: CA112954005

Gene: SLC6A3

Linked Data

• dbSNP Id: rs545881658
• gnomAD v2: 5-1394443-C-T
• gnomAD v3: 5-1394328-C-T
• gnomAD v4: 5-1394328-C-T
• MyVariant Identifiers: chr5:g.1394443C>T (hg19) ; chr5:g.1394328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1394328C>T , CM000667.2:g.1394328C>T	GRCh38
NC_000005.9:g.1394443C>T , CM000667.1:g.1394443C>T	GRCh37
NC_000005.8:g.1447443C>T	NCBI36
NG_015885.1:g.56101G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.*407G>A MANE Select	ENSP00000270349.9:n.*407G>A
ENST00000270349.11:c.*407G>A	ENSP00000270349.9:n.*407G>A
ENST00000512002.2:n.651G>A
NM_001044.4:c.*407G>A	NP_001035.1:n.*407G>A
NM_001044.5:c.*407G>A MANE Select	NP_001035.1:n.*407G>A