Canonical Allele Identifier: CA1522520225
Gene: SLC6A19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213468G= , CM000667.2:g.1213468G= GRCh38
NC_000005.9:g.1213583G= , CM000667.1:g.1213583G= GRCh37
NC_000005.8:g.1266583G= NCBI36
NG_008282.1:g.16874G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.669G= MANE Select ENSP00000305302.10:p.Val223=
ENST00000304460.10:c.669G= ENSP00000305302.10:p.Val223=
ENST00000515652.5:c.577G= ENSP00000425701.1:p.Val193=
NM_001003841.2:c.669G= NP_001003841.1:p.Val223=
NM_001003841.3:c.669G= MANE Select NP_001003841.1:p.Val223=