Canonical Allele Identifier: CA3182839
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2166525
ClinVar RCV Id: RCV003091807
dbSNP Id: rs200353409
ExAC: 5:1213610 C / T
gnomAD v2: 5-1213610-C-T
gnomAD v3: 5-1213495-C-T
gnomAD v4: 5-1213495-C-T
COSMIC: COSM1178495
MyVariant Identifiers: chr5:g.1213610C>T (hg19) chr5:g.1213495C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213495C>T , CM000667.2:g.1213495C>T GRCh38
NC_000005.9:g.1213610C>T , CM000667.1:g.1213610C>T GRCh37
NC_000005.8:g.1266610C>T NCBI36
NG_008282.1:g.16901C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.696C>T MANE Select ENSP00000305302.10:p.Val232=
ENST00000304460.10:c.696C>T ENSP00000305302.10:p.Val232=
ENST00000515652.5:c.604C>T ENSP00000425701.1:p.Arg202Cys
NM_001003841.2:c.696C>T NP_001003841.1:p.Val232=
NM_001003841.3:c.696C>T MANE Select NP_001003841.1:p.Val232=
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Search 100 bp 3'