Canonical Allele Identifier: CA2673072232
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213381-A-AC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213381_1213382insC , CM000667.2:g.1213381_1213382insC GRCh38
NC_000005.9:g.1213496_1213497insC , CM000667.1:g.1213496_1213497insC GRCh37
NC_000005.8:g.1266496_1266497insC NCBI36
NG_008282.1:g.16787_16788insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-82_664-81insC MANE Select ENSP00000305302.10:n.664-82_664-81insC
ENST00000304460.10:c.664-82_664-81insC ENSP00000305302.10:n.664-82_664-81insC
ENST00000515652.5:c.572-82_572-81insC ENSP00000425701.1:n.572-82_572-81insC
NM_001003841.2:c.664-82_664-81insC NP_001003841.1:n.664-82_664-81insC
NM_001003841.3:c.664-82_664-81insC MANE Select NP_001003841.1:n.664-82_664-81insC