Canonical Allele Identifier: CA112963104

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 1244416
• ClinVar RCV Id: RCV001656009
• dbSNP Id: rs60553822
• gnomAD v2: 5-1414537-G-A
• gnomAD v3: 5-1414422-G-A
• gnomAD v4: 5-1414422-G-A
• MyVariant Identifiers: chr5:g.1414537G>A (hg19) ; chr5:g.1414422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414422G>A , CM000667.2:g.1414422G>A	GRCh38
NC_000005.9:g.1414537G>A , CM000667.1:g.1414537G>A	GRCh37
NC_000005.8:g.1467537G>A	NCBI36
NG_015885.1:g.36007C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+269C>T MANE Select	ENSP00000270349.9:n.1156+269C>T
ENST00000270349.11:c.1156+269C>T	ENSP00000270349.9:n.1156+269C>T
NM_001044.4:c.1156+269C>T	NP_001035.1:n.1156+269C>T
NM_001044.5:c.1156+269C>T MANE Select	NP_001035.1:n.1156+269C>T