Canonical Allele Identifier: CA1072492071
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213024-C-CCA
gnomAD v4: 5-1213024-C-CCA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213025_1213026dup , CM000667.2:g.1213025_1213026dup GRCh38
NC_000005.9:g.1213140_1213141dup , CM000667.1:g.1213140_1213141dup GRCh37
NC_000005.8:g.1266140_1266141dup NCBI36
NG_008282.1:g.16431_16432dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-438_664-437dup MANE Select ENSP00000305302.10:n.664-438_664-437dup
ENST00000304460.10:c.664-438_664-437dup ENSP00000305302.10:n.664-438_664-437dup
ENST00000515652.5:c.572-438_572-437dup ENSP00000425701.1:n.572-438_572-437dup
NM_001003841.2:c.664-438_664-437dup NP_001003841.1:n.664-438_664-437dup
NM_001003841.3:c.664-438_664-437dup MANE Select NP_001003841.1:n.664-438_664-437dup
Search 100 bp 5'
Search 100 bp 3'