Canonical Allele Identifier: CA1072491941
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212981-TCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCTCGGCCCCCCGTCGCCCTGGGCCCCCTTCCCCAGATGCCCCAACCCCTGTAGGCCTGGCCCCC-T
gnomAD v4: 5-1212981-TCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCTCGGCCCCCCGTCGCCCTGGGCCCCCTTCCCCAGATGCCCCAACCCCTGTAGGCCTGGCCCCC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212983_1213157del , CM000667.2:g.1212983_1213157del GRCh38
NC_000005.9:g.1213098_1213272del , CM000667.1:g.1213098_1213272del GRCh37
NC_000005.8:g.1266098_1266272del NCBI36
NG_008282.1:g.16389_16563del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-480_664-306del MANE Select ENSP00000305302.10:n.664-480_664-306del
ENST00000304460.10:c.664-480_664-306del ENSP00000305302.10:n.664-480_664-306del
ENST00000515652.5:c.572-480_572-306del ENSP00000425701.1:n.572-480_572-306del
NM_001003841.2:c.664-480_664-306del NP_001003841.1:n.664-480_664-306del
NM_001003841.3:c.664-480_664-306del MANE Select NP_001003841.1:n.664-480_664-306del
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