Canonical Allele Identifier: CA359067844
Gene: SLC6A19 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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