Canonical Allele Identifier: CA557557193
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1561165438
gnomAD v2: 5-1213153-TCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC-T
gnomAD v3: 5-1213038-TCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC-T
gnomAD v4: 5-1213038-TCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTC-T
MyVariant Identifiers: chr5:g.1213154_1213200del (hg19) chr5:g.1213039_1213085del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213045_1213091del , CM000667.2:g.1213045_1213091del GRCh38
NC_000005.9:g.1213160_1213206del , CM000667.1:g.1213160_1213206del GRCh37
NC_000005.8:g.1266160_1266206del NCBI36
NG_008282.1:g.16451_16497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-418_664-372del MANE Select ENSP00000305302.10:n.664-418_664-372del
ENST00000304460.10:c.664-418_664-372del ENSP00000305302.10:n.664-418_664-372del
ENST00000515652.5:c.572-418_572-372del ENSP00000425701.1:n.572-418_572-372del
NM_001003841.2:c.664-418_664-372del NP_001003841.1:n.664-418_664-372del
NM_001003841.3:c.664-418_664-372del MANE Select NP_001003841.1:n.664-418_664-372del
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