Canonical Allele Identifier: CA1072524575

Gene: SLC6A3

Linked Data

• gnomAD v3: 5-1414453-G-GCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT
• gnomAD v4: 5-1414453-G-GCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414481_1414518dup , CM000667.2:g.1414481_1414518dup	GRCh38
NC_000005.9:g.1414596_1414633dup , CM000667.1:g.1414596_1414633dup	GRCh37
NC_000005.8:g.1467596_1467633dup	NCBI36
NG_015885.1:g.35938_35975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+200_1156+237dup MANE Select	ENSP00000270349.9:n.1156+200_1156+237dup
ENST00000270349.11:c.1156+200_1156+237dup	ENSP00000270349.9:n.1156+200_1156+237dup
NM_001044.4:c.1156+200_1156+237dup	NP_001035.1:n.1156+200_1156+237dup
NM_001044.5:c.1156+200_1156+237dup MANE Select	NP_001035.1:n.1156+200_1156+237dup