Canonical Allele Identifier: CA2578258866
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213364-A-AC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213365dup , CM000667.2:g.1213365dup GRCh38
NC_000005.9:g.1213480dup , CM000667.1:g.1213480dup GRCh37
NC_000005.8:g.1266480dup NCBI36
NG_008282.1:g.16771dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-98dup MANE Select ENSP00000305302.10:n.664-98dup
ENST00000304460.10:c.664-98dup ENSP00000305302.10:n.664-98dup
ENST00000515652.5:c.572-98dup ENSP00000425701.1:n.572-98dup
NM_001003841.2:c.664-98dup NP_001003841.1:n.664-98dup
NM_001003841.3:c.664-98dup MANE Select NP_001003841.1:n.664-98dup