Canonical Allele Identifier: CA359067286
Gene: SLC6A19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213467T>A , CM000667.2:g.1213467T>A GRCh38
NC_000005.9:g.1213582T>A , CM000667.1:g.1213582T>A GRCh37
NC_000005.8:g.1266582T>A NCBI36
NG_008282.1:g.16873T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.668T>A MANE Select ENSP00000305302.10:p.Val223Glu
ENST00000304460.10:c.668T>A ENSP00000305302.10:p.Val223Glu
ENST00000515652.5:c.576T>A ENSP00000425701.1:p.Arg192=
NM_001003841.2:c.668T>A NP_001003841.1:p.Val223Glu
NM_001003841.3:c.668T>A MANE Select NP_001003841.1:p.Val223Glu