Canonical Allele Identifier: CA1072528037

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1361411055
• gnomAD v3: 5-1415535-A-G
• gnomAD v4: 5-1415535-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1415535A>G , CM000667.2:g.1415535A>G	GRCh38
NC_000005.9:g.1415650A>G , CM000667.1:g.1415650A>G	GRCh37
NC_000005.8:g.1468650A>G	NCBI36
NG_015885.1:g.34894T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000270349.12:c.1031+563T>C MANE Select	ENSP00000270349.9:n.1031+563T>C
ENST00000270349.11:c.1031+563T>C	ENSP00000270349.9:n.1031+563T>C
ENST00000511750.1:n.481+563T>C
NM_001044.4:c.1031+563T>C	NP_001035.1:n.1031+563T>C
NM_001044.5:c.1031+563T>C MANE Select	NP_001035.1:n.1031+563T>C