Canonical Allele Identifier: CA1072492401
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213207-CAT-C
gnomAD v4: 5-1213207-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213208_1213209del , CM000667.2:g.1213208_1213209del GRCh38
NC_000005.9:g.1213323_1213324del , CM000667.1:g.1213323_1213324del GRCh37
NC_000005.8:g.1266323_1266324del NCBI36
NG_008282.1:g.16614_16615del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-255_664-254del MANE Select ENSP00000305302.10:n.664-255_664-254del
ENST00000304460.10:c.664-255_664-254del ENSP00000305302.10:n.664-255_664-254del
ENST00000515652.5:c.572-255_572-254del ENSP00000425701.1:n.572-255_572-254del
NM_001003841.2:c.664-255_664-254del NP_001003841.1:n.664-255_664-254del
NM_001003841.3:c.664-255_664-254del MANE Select NP_001003841.1:n.664-255_664-254del
Search 100 bp 5'
Search 100 bp 3'