Canonical Allele Identifier: CA802930330
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1199113764
gnomAD v3: 5-1213380-TATGCCCCGCCCCCAC-T
gnomAD v4: 5-1213380-TATGCCCCGCCCCCAC-T
MyVariant Identifiers: chr5:g.1213496_1213510del (hg19) chr5:g.1213381_1213395del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213381_1213395del , CM000667.2:g.1213381_1213395del GRCh38
NC_000005.9:g.1213496_1213510del , CM000667.1:g.1213496_1213510del GRCh37
NC_000005.8:g.1266496_1266510del NCBI36
NG_008282.1:g.16787_16801del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-82_664-68del MANE Select ENSP00000305302.10:n.664-82_664-68del
ENST00000304460.10:c.664-82_664-68del ENSP00000305302.10:n.664-82_664-68del
ENST00000515652.5:c.572-82_572-68del ENSP00000425701.1:n.572-82_572-68del
NM_001003841.2:c.664-82_664-68del NP_001003841.1:n.664-82_664-68del
NM_001003841.3:c.664-82_664-68del MANE Select NP_001003841.1:n.664-82_664-68del
Search 100 bp 5'
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