Canonical Allele Identifier: CA2765038627
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213063_1213072del , CM000667.2:g.1213063_1213072del GRCh38
NC_000005.9:g.1213178_1213187del , CM000667.1:g.1213178_1213187del GRCh37
NC_000005.8:g.1266178_1266187del NCBI36
NG_008282.1:g.16469_16478del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-400_664-391del MANE Select ENSP00000305302.10:n.664-400_664-391del
ENST00000304460.10:c.664-400_664-391del ENSP00000305302.10:n.664-400_664-391del
ENST00000515652.5:c.572-400_572-391del ENSP00000425701.1:n.572-400_572-391del
NM_001003841.2:c.664-400_664-391del NP_001003841.1:n.664-400_664-391del
NM_001003841.3:c.664-400_664-391del MANE Select NP_001003841.1:n.664-400_664-391del