Canonical Allele Identifier: CA557557226
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v2: 5-1213354-C-CGTGTA
gnomAD v3: 5-1213239-C-CGTGTA
gnomAD v4: 5-1213239-C-CGTGTA
MyVariant Identifiers: chr5:g.1213354_1213355insGTGTA (hg19) chr5:g.1213239_1213240insGTGTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213239_1213240insGTGTA , CM000667.2:g.1213239_1213240insGTGTA GRCh38
NC_000005.9:g.1213354_1213355insGTGTA , CM000667.1:g.1213354_1213355insGTGTA GRCh37
NC_000005.8:g.1266354_1266355insGTGTA NCBI36
NG_008282.1:g.16645_16646insGTGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-224_664-223insGTGTA MANE Select ENSP00000305302.10:n.664-224_664-223insGTGTA
ENST00000304460.10:c.664-224_664-223insGTGTA ENSP00000305302.10:n.664-224_664-223insGTGTA
ENST00000515652.5:c.572-224_572-223insGTGTA ENSP00000425701.1:n.572-224_572-223insGTGTA
NM_001003841.2:c.664-224_664-223insGTGTA NP_001003841.1:n.664-224_664-223insGTGTA
NM_001003841.3:c.664-224_664-223insGTGTA MANE Select NP_001003841.1:n.664-224_664-223insGTGTA
Search 100 bp 5'
Search 100 bp 3'