Canonical Allele Identifier: CA1072491929
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212974-GCC-G
gnomAD v4: 5-1212974-GCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212979_1212980del , CM000667.2:g.1212979_1212980del GRCh38
NC_000005.9:g.1213094_1213095del , CM000667.1:g.1213094_1213095del GRCh37
NC_000005.8:g.1266094_1266095del NCBI36
NG_008282.1:g.16385_16386del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-484_664-483del MANE Select ENSP00000305302.10:n.664-484_664-483del
ENST00000304460.10:c.664-484_664-483del ENSP00000305302.10:n.664-484_664-483del
ENST00000515652.5:c.572-484_572-483del ENSP00000425701.1:n.572-484_572-483del
NM_001003841.2:c.664-484_664-483del NP_001003841.1:n.664-484_664-483del
NM_001003841.3:c.664-484_664-483del MANE Select NP_001003841.1:n.664-484_664-483del
Search 100 bp 5'
Search 100 bp 3'