Canonical Allele Identifier: CA1072492083

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746088930
• gnomAD v3: 5-1213026-ATCCC-A
• gnomAD v4: 5-1213026-ATCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213027_1213030del , CM000667.2:g.1213027_1213030del	GRCh38
NC_000005.9:g.1213142_1213145del , CM000667.1:g.1213142_1213145del	GRCh37
NC_000005.8:g.1266142_1266145del	NCBI36
NG_008282.1:g.16433_16436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-436_664-433del MANE Select	ENSP00000305302.10:n.664-436_664-433del
ENST00000304460.10:c.664-436_664-433del	ENSP00000305302.10:n.664-436_664-433del
ENST00000515652.5:c.572-436_572-433del	ENSP00000425701.1:n.572-436_572-433del
NM_001003841.2:c.664-436_664-433del	NP_001003841.1:n.664-436_664-433del
NM_001003841.3:c.664-436_664-433del MANE Select	NP_001003841.1:n.664-436_664-433del