Canonical Allele Identifier: CA802930208
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1381706651
gnomAD v3: 5-1213195-GC-G
gnomAD v4: 5-1213195-GC-G
MyVariant Identifiers: chr5:g.1213311del (hg19) chr5:g.1213196del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213201del , CM000667.2:g.1213201del GRCh38
NC_000005.9:g.1213316del , CM000667.1:g.1213316del GRCh37
NC_000005.8:g.1266316del NCBI36
NG_008282.1:g.16607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-262del MANE Select ENSP00000305302.10:n.664-262del
ENST00000304460.10:c.664-262del ENSP00000305302.10:n.664-262del
ENST00000515652.5:c.572-262del ENSP00000425701.1:n.572-262del
NM_001003841.2:c.664-262del NP_001003841.1:n.664-262del
NM_001003841.3:c.664-262del MANE Select NP_001003841.1:n.664-262del
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