Canonical Allele Identifier: CA557557173
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1158358786
gnomAD v2: 5-1213079-CACAAGCACGG-C
gnomAD v3: 5-1212964-CACAAGCACGG-C
gnomAD v4: 5-1212964-CACAAGCACGG-C
MyVariant Identifiers: chr5:g.1213080_1213089del (hg19) chr5:g.1212965_1212974del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212965_1212974del , CM000667.2:g.1212965_1212974del GRCh38
NC_000005.9:g.1213080_1213089del , CM000667.1:g.1213080_1213089del GRCh37
NC_000005.8:g.1266080_1266089del NCBI36
NG_008282.1:g.16371_16380del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+481_664-489del MANE Select ENSP00000305302.10:n.663+481_664-489del
ENST00000304460.10:c.663+481_664-489del ENSP00000305302.10:n.663+481_664-489del
ENST00000515652.5:c.571+481_572-489del ENSP00000425701.1:n.571+481_572-489del
NM_001003841.2:c.663+481_664-489del NP_001003841.1:n.663+481_664-489del
NM_001003841.3:c.663+481_664-489del MANE Select NP_001003841.1:n.663+481_664-489del
Search 100 bp 5'
Search 100 bp 3'