Canonical Allele Identifier: CA1072491848
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212959-C-CG
gnomAD v4: 5-1212959-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212959_1212960insG , CM000667.2:g.1212959_1212960insG GRCh38
NC_000005.9:g.1213074_1213075insG , CM000667.1:g.1213074_1213075insG GRCh37
NC_000005.8:g.1266074_1266075insG NCBI36
NG_008282.1:g.16365_16366insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+475_663+476insG MANE Select ENSP00000305302.10:n.663+475_663+476insG
ENST00000304460.10:c.663+475_663+476insG ENSP00000305302.10:n.663+475_663+476insG
ENST00000515652.5:c.571+475_571+476insG ENSP00000425701.1:n.571+475_571+476insG
NM_001003841.2:c.663+475_663+476insG NP_001003841.1:n.663+475_663+476insG
NM_001003841.3:c.663+475_663+476insG MANE Select NP_001003841.1:n.663+475_663+476insG
Search 100 bp 5'
Search 100 bp 3'