Canonical Allele Identifier: CA2578258872
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213368-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213372dup , CM000667.2:g.1213372dup GRCh38
NC_000005.9:g.1213487dup , CM000667.1:g.1213487dup GRCh37
NC_000005.8:g.1266487dup NCBI36
NG_008282.1:g.16778dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-91dup MANE Select ENSP00000305302.10:n.664-91dup
ENST00000304460.10:c.664-91dup ENSP00000305302.10:n.664-91dup
ENST00000515652.5:c.572-91dup ENSP00000425701.1:n.572-91dup
NM_001003841.2:c.664-91dup NP_001003841.1:n.664-91dup
NM_001003841.3:c.664-91dup MANE Select NP_001003841.1:n.664-91dup