Canonical Allele Identifier: CA2673072121
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213350-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213350_1213351insT , CM000667.2:g.1213350_1213351insT GRCh38
NC_000005.9:g.1213465_1213466insT , CM000667.1:g.1213465_1213466insT GRCh37
NC_000005.8:g.1266465_1266466insT NCBI36
NG_008282.1:g.16756_16757insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-113_664-112insT MANE Select ENSP00000305302.10:n.664-113_664-112insT
ENST00000304460.10:c.664-113_664-112insT ENSP00000305302.10:n.664-113_664-112insT
ENST00000515652.5:c.572-113_572-112insT ENSP00000425701.1:n.572-113_572-112insT
NM_001003841.2:c.664-113_664-112insT NP_001003841.1:n.664-113_664-112insT
NM_001003841.3:c.664-113_664-112insT MANE Select NP_001003841.1:n.664-113_664-112insT