Canonical Allele Identifier: CA443019251
Gene: SLC6A19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213575dup , CM000667.2:g.1213575dup GRCh38
NC_000005.9:g.1213690dup , CM000667.1:g.1213690dup GRCh37
NC_000005.8:g.1266690dup NCBI36
NG_008282.1:g.16981dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+2dup MANE Select ENSP00000305302.10:n.774+2dup
ENST00000304460.10:c.774+2dup ENSP00000305302.10:n.774+2dup
ENST00000515652.5:c.682+2dup ENSP00000425701.1:n.682+2dup
NM_001003841.2:c.774+2dup NP_001003841.1:n.774+2dup
NM_001003841.3:c.774+2dup MANE Select NP_001003841.1:n.774+2dup