Canonical Allele Identifier: CA443019099
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 3018320
ClinVar RCV Id: RCV003876983
gnomAD v4: 5-1213516-C-A
MyVariant Identifiers: chr5:g.1213631C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213516C>A , CM000667.2:g.1213516C>A GRCh38
NC_000005.9:g.1213631C>A , CM000667.1:g.1213631C>A GRCh37
NC_000005.8:g.1266631C>A NCBI36
NG_008282.1:g.16922C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.717C>A MANE Select ENSP00000305302.10:p.Ile239=
ENST00000304460.10:c.717C>A ENSP00000305302.10:p.Ile239=
ENST00000515652.5:c.625C>A ENSP00000425701.1:p.Pro209Thr
NM_001003841.2:c.717C>A NP_001003841.1:p.Ile239=
NM_001003841.3:c.717C>A MANE Select NP_001003841.1:p.Ile239=
Search 100 bp 5'
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