Canonical Allele Identifier: CA359067809
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213568-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213568C>A , CM000667.2:g.1213568C>A GRCh38
NC_000005.9:g.1213683C>A , CM000667.1:g.1213683C>A GRCh37
NC_000005.8:g.1266683C>A NCBI36
NG_008282.1:g.16974C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.769C>A MANE Select ENSP00000305302.10:p.Pro257Thr
ENST00000304460.10:c.769C>A ENSP00000305302.10:p.Pro257Thr
ENST00000515652.5:c.677C>A ENSP00000425701.1:p.Ala226Asp
NM_001003841.2:c.769C>A NP_001003841.1:p.Pro257Thr
NM_001003841.3:c.769C>A MANE Select NP_001003841.1:p.Pro257Thr