Canonical Allele Identifier: CA2673072236
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213383-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213387dup , CM000667.2:g.1213387dup GRCh38
NC_000005.9:g.1213502dup , CM000667.1:g.1213502dup GRCh37
NC_000005.8:g.1266502dup NCBI36
NG_008282.1:g.16793dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-76dup MANE Select ENSP00000305302.10:n.664-76dup
ENST00000304460.10:c.664-76dup ENSP00000305302.10:n.664-76dup
ENST00000515652.5:c.572-76dup ENSP00000425701.1:n.572-76dup
NM_001003841.2:c.664-76dup NP_001003841.1:n.664-76dup
NM_001003841.3:c.664-76dup MANE Select NP_001003841.1:n.664-76dup