Canonical Allele Identifier: CA1072492383
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213202-A-AACT
gnomAD v4: 5-1213202-A-AACT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213202_1213203insACT , CM000667.2:g.1213202_1213203insACT GRCh38
NC_000005.9:g.1213317_1213318insACT , CM000667.1:g.1213317_1213318insACT GRCh37
NC_000005.8:g.1266317_1266318insACT NCBI36
NG_008282.1:g.16608_16609insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-261_664-260insACT MANE Select ENSP00000305302.10:n.664-261_664-260insACT
ENST00000304460.10:c.664-261_664-260insACT ENSP00000305302.10:n.664-261_664-260insACT
ENST00000515652.5:c.572-261_572-260insACT ENSP00000425701.1:n.572-261_572-260insACT
NM_001003841.2:c.664-261_664-260insACT NP_001003841.1:n.664-261_664-260insACT
NM_001003841.3:c.664-261_664-260insACT MANE Select NP_001003841.1:n.664-261_664-260insACT
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