Canonical Allele Identifier: CA359067676
Gene: SLC6A19 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213536G>A , CM000667.2:g.1213536G>A GRCh38
NC_000005.9:g.1213651G>A , CM000667.1:g.1213651G>A GRCh37
NC_000005.8:g.1266651G>A NCBI36
NG_008282.1:g.16942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.737G>A MANE Select ENSP00000305302.10:p.Gly246Asp
ENST00000304460.10:c.737G>A ENSP00000305302.10:p.Gly246Asp
ENST00000515652.5:c.645G>A ENSP00000425701.1:p.Gly215=
NM_001003841.2:c.737G>A NP_001003841.1:p.Gly246Asp
NM_001003841.3:c.737G>A MANE Select NP_001003841.1:p.Gly246Asp