Canonical Allele Identifier: CA3182857
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs375879452
gnomAD v2: 5-1213681-C-A
gnomAD v3: 5-1213566-C-A
gnomAD v4: 5-1213566-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213566C>A , CM000667.2:g.1213566C>A GRCh38
NC_000005.9:g.1213681C>A , CM000667.1:g.1213681C>A GRCh37
NC_000005.8:g.1266681C>A NCBI36
NG_008282.1:g.16972C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.767C>A MANE Select ENSP00000305302.10:p.Thr256Lys
ENST00000304460.10:c.767C>A ENSP00000305302.10:p.Thr256Lys
ENST00000515652.5:c.675C>A ENSP00000425701.1:p.His225Gln
NM_001003841.2:c.767C>A NP_001003841.1:p.Thr256Lys
NM_001003841.3:c.767C>A MANE Select NP_001003841.1:p.Thr256Lys