Canonical Allele Identifier: CA1072524624

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756214991
• gnomAD v3: 5-1414459-C-CA
• gnomAD v4: 5-1414459-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414459_1414460insA , CM000667.2:g.1414459_1414460insA	GRCh38
NC_000005.9:g.1414574_1414575insA , CM000667.1:g.1414574_1414575insA	GRCh37
NC_000005.8:g.1467574_1467575insA	NCBI36
NG_015885.1:g.35969_35970insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+231_1156+232insT MANE Select	ENSP00000270349.9:n.1156+231_1156+232insT
ENST00000270349.11:c.1156+231_1156+232insT	ENSP00000270349.9:n.1156+231_1156+232insT
NM_001044.4:c.1156+231_1156+232insT	NP_001035.1:n.1156+231_1156+232insT
NM_001044.5:c.1156+231_1156+232insT MANE Select	NP_001035.1:n.1156+231_1156+232insT