Canonical Allele Identifier: CA1072493017
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213376-C-CT
gnomAD v4: 5-1213376-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213376_1213377insT , CM000667.2:g.1213376_1213377insT GRCh38
NC_000005.9:g.1213491_1213492insT , CM000667.1:g.1213491_1213492insT GRCh37
NC_000005.8:g.1266491_1266492insT NCBI36
NG_008282.1:g.16782_16783insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-87_664-86insT MANE Select ENSP00000305302.10:n.664-87_664-86insT
ENST00000304460.10:c.664-87_664-86insT ENSP00000305302.10:n.664-87_664-86insT
ENST00000515652.5:c.572-87_572-86insT ENSP00000425701.1:n.572-87_572-86insT
NM_001003841.2:c.664-87_664-86insT NP_001003841.1:n.664-87_664-86insT
NM_001003841.3:c.664-87_664-86insT MANE Select NP_001003841.1:n.664-87_664-86insT