Canonical Allele Identifier: CA1072492026
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746087757
gnomAD v3: 5-1213004-G-GCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGC
gnomAD v4: 5-1213004-G-GCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213006_1213052dup , CM000667.2:g.1213006_1213052dup GRCh38
NC_000005.9:g.1213121_1213167dup , CM000667.1:g.1213121_1213167dup GRCh37
NC_000005.8:g.1266121_1266167dup NCBI36
NG_008282.1:g.16412_16458dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-457_664-411dup MANE Select ENSP00000305302.10:n.664-457_664-411dup
ENST00000304460.10:c.664-457_664-411dup ENSP00000305302.10:n.664-457_664-411dup
ENST00000515652.5:c.572-457_572-411dup ENSP00000425701.1:n.572-457_572-411dup
NM_001003841.2:c.664-457_664-411dup NP_001003841.1:n.664-457_664-411dup
NM_001003841.3:c.664-457_664-411dup MANE Select NP_001003841.1:n.664-457_664-411dup
Search 100 bp 5'
Search 100 bp 3'