Canonical Allele Identifier: CA1072492392
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213206-C-CG
gnomAD v4: 5-1213206-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213206_1213207insG , CM000667.2:g.1213206_1213207insG GRCh38
NC_000005.9:g.1213321_1213322insG , CM000667.1:g.1213321_1213322insG GRCh37
NC_000005.8:g.1266321_1266322insG NCBI36
NG_008282.1:g.16612_16613insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-257_664-256insG MANE Select ENSP00000305302.10:n.664-257_664-256insG
ENST00000304460.10:c.664-257_664-256insG ENSP00000305302.10:n.664-257_664-256insG
ENST00000515652.5:c.572-257_572-256insG ENSP00000425701.1:n.572-257_572-256insG
NM_001003841.2:c.664-257_664-256insG NP_001003841.1:n.664-257_664-256insG
NM_001003841.3:c.664-257_664-256insG MANE Select NP_001003841.1:n.664-257_664-256insG
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