Canonical Allele Identifier: CA2673072316

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213585-AGGCTGCCCTGGGCCCAGACCCCGGGAGAGGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213596_1213628del , CM000667.2:g.1213596_1213628del	GRCh38
NC_000005.9:g.1213711_1213743del , CM000667.1:g.1213711_1213743del	GRCh37
NC_000005.8:g.1266711_1266743del	NCBI36
NG_008282.1:g.17002_17034del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+23_774+55del MANE Select	ENSP00000305302.10:n.774+23_774+55del
ENST00000304460.10:c.774+23_774+55del	ENSP00000305302.10:n.774+23_774+55del
ENST00000515652.5:c.682+23_682+55del	ENSP00000425701.1:n.682+23_682+55del
NM_001003841.2:c.774+23_774+55del	NP_001003841.1:n.774+23_774+55del
NM_001003841.3:c.774+23_774+55del MANE Select	NP_001003841.1:n.774+23_774+55del