Canonical Allele Identifier: CA1072492853
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213289-TCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCG-T
gnomAD v4: 5-1213289-TCCCCCCAACAGGCCTGGCCCCCTCCCCACCCTTCCAGCATGCCTCG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213296_1213341del , CM000667.2:g.1213296_1213341del GRCh38
NC_000005.9:g.1213411_1213456del , CM000667.1:g.1213411_1213456del GRCh37
NC_000005.8:g.1266411_1266456del NCBI36
NG_008282.1:g.16702_16747del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-167_664-122del MANE Select ENSP00000305302.10:n.664-167_664-122del
ENST00000304460.10:c.664-167_664-122del ENSP00000305302.10:n.664-167_664-122del
ENST00000515652.5:c.572-167_572-122del ENSP00000425701.1:n.572-167_572-122del
NM_001003841.2:c.664-167_664-122del NP_001003841.1:n.664-167_664-122del
NM_001003841.3:c.664-167_664-122del MANE Select NP_001003841.1:n.664-167_664-122del
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