Canonical Allele Identifier: CA1072492033
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746088055
gnomAD v3: 5-1213006-TC-T
gnomAD v4: 5-1213006-TC-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213009del , CM000667.2:g.1213009del GRCh38
NC_000005.9:g.1213124del , CM000667.1:g.1213124del GRCh37
NC_000005.8:g.1266124del NCBI36
NG_008282.1:g.16415del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-454del MANE Select ENSP00000305302.10:n.664-454del
ENST00000304460.10:c.664-454del ENSP00000305302.10:n.664-454del
ENST00000515652.5:c.572-454del ENSP00000425701.1:n.572-454del
NM_001003841.2:c.664-454del NP_001003841.1:n.664-454del
NM_001003841.3:c.664-454del MANE Select NP_001003841.1:n.664-454del