Canonical Allele Identifier: CA1522520116

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746106249
• gnomAD v4: 5-1213401-G-GCCCCCACGTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213408_1213409insGTGCCCCCCCCAC , CM000667.2:g.1213408_1213409insGTGCCCCCCCCAC	GRCh38
NC_000005.9:g.1213523_1213524insGTGCCCCCCCCAC , CM000667.1:g.1213523_1213524insGTGCCCCCCCCAC	GRCh37
NC_000005.8:g.1266523_1266524insGTGCCCCCCCCAC	NCBI36
NG_008282.1:g.16814_16815insGTGCCCCCCCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-55_664-54insGTGCCCCCCCCAC MANE Select	ENSP00000305302.10:n.664-55_664-54insGTGCCCCCCCCAC
ENST00000304460.10:c.664-55_664-54insGTGCCCCCCCCAC	ENSP00000305302.10:n.664-55_664-54insGTGCCCCCCCCAC
ENST00000515652.5:c.572-55_572-54insGTGCCCCCCCCAC	ENSP00000425701.1:n.572-55_572-54insGTGCCCCCCCCAC
NM_001003841.2:c.664-55_664-54insGTGCCCCCCCCAC	NP_001003841.1:n.664-55_664-54insGTGCCCCCCCCAC
NM_001003841.3:c.664-55_664-54insGTGCCCCCCCCAC MANE Select	NP_001003841.1:n.664-55_664-54insGTGCCCCCCCCAC