Canonical Allele Identifier: CA359067536
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 973486
ClinVar RCV Id: RCV001250112
dbSNP Id: rs901169831
MyVariant Identifiers: chr5:g.1213626C>T (hg19) chr5:g.1213511C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213511C>T , CM000667.2:g.1213511C>T GRCh38
NC_000005.9:g.1213626C>T , CM000667.1:g.1213626C>T GRCh37
NC_000005.8:g.1266626C>T NCBI36
NG_008282.1:g.16917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.712C>T MANE Select ENSP00000305302.10:p.Leu238Phe
ENST00000304460.10:c.712C>T ENSP00000305302.10:p.Leu238Phe
ENST00000515652.5:c.620C>T ENSP00000425701.1:p.Pro207Leu
NM_001003841.2:c.712C>T NP_001003841.1:p.Leu238Phe
NM_001003841.3:c.712C>T MANE Select NP_001003841.1:p.Leu238Phe
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