Canonical Allele Identifier: CA2673072246

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213388-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213392_1213393del , CM000667.2:g.1213392_1213393del	GRCh38
NC_000005.9:g.1213507_1213508del , CM000667.1:g.1213507_1213508del	GRCh37
NC_000005.8:g.1266507_1266508del	NCBI36
NG_008282.1:g.16798_16799del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-71_664-70del MANE Select	ENSP00000305302.10:n.664-71_664-70del
ENST00000304460.10:c.664-71_664-70del	ENSP00000305302.10:n.664-71_664-70del
ENST00000515652.5:c.572-71_572-70del	ENSP00000425701.1:n.572-71_572-70del
NM_001003841.2:c.664-71_664-70del	NP_001003841.1:n.664-71_664-70del
NM_001003841.3:c.664-71_664-70del MANE Select	NP_001003841.1:n.664-71_664-70del