Canonical Allele Identifier: CA1072492970
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213345-GGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCAT-G
gnomAD v4: 5-1213345-GGCCTGGCCCCCATTCCCCACATGCCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCAT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213357_1213424del , CM000667.2:g.1213357_1213424del GRCh38
NC_000005.9:g.1213472_1213539del , CM000667.1:g.1213472_1213539del GRCh37
NC_000005.8:g.1266472_1266539del NCBI36
NG_008282.1:g.16763_16830del

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-106_664-39del MANE Select ENSP00000305302.10:n.664-106_664-39del
ENST00000304460.10:c.664-106_664-39del ENSP00000305302.10:n.664-106_664-39del
ENST00000515652.5:c.572-106_572-39del ENSP00000425701.1:n.572-106_572-39del
NM_001003841.2:c.664-106_664-39del NP_001003841.1:n.664-106_664-39del
NM_001003841.3:c.664-106_664-39del MANE Select NP_001003841.1:n.664-106_664-39del
Search 100 bp 5'
Search 100 bp 3'