Canonical Allele Identifier: CA1072492150
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213068-CT-C
gnomAD v4: 5-1213068-CT-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213069del , CM000667.2:g.1213069del GRCh38
NC_000005.9:g.1213184del , CM000667.1:g.1213184del GRCh37
NC_000005.8:g.1266184del NCBI36
NG_008282.1:g.16475del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-394del MANE Select ENSP00000305302.10:n.664-394del
ENST00000304460.10:c.664-394del ENSP00000305302.10:n.664-394del
ENST00000515652.5:c.572-394del ENSP00000425701.1:n.572-394del
NM_001003841.2:c.664-394del NP_001003841.1:n.664-394del
NM_001003841.3:c.664-394del MANE Select NP_001003841.1:n.664-394del