Canonical Allele Identifier: CA359067497
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1433140397
MyVariant Identifiers: chr5:g.1213618C>T (hg19) chr5:g.1213503C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213503C>T , CM000667.2:g.1213503C>T GRCh38
NC_000005.9:g.1213618C>T , CM000667.1:g.1213618C>T GRCh37
NC_000005.8:g.1266618C>T NCBI36
NG_008282.1:g.16909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.704C>T MANE Select ENSP00000305302.10:p.Thr235Ile
ENST00000304460.10:c.704C>T ENSP00000305302.10:p.Thr235Ile
ENST00000515652.5:c.612C>T ENSP00000425701.1:p.Asp204=
NM_001003841.2:c.704C>T NP_001003841.1:p.Thr235Ile
NM_001003841.3:c.704C>T MANE Select NP_001003841.1:p.Thr235Ile
Search 100 bp 5'
Search 100 bp 3'