Canonical Allele Identifier: CA557557266
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1944015
ClinVar RCV Id: RCV002663070
dbSNP Id: rs1208242953
gnomAD v2: 5-1213563-T-C
gnomAD v3: 5-1213448-T-C
gnomAD v4: 5-1213448-T-C
MyVariant Identifiers: chr5:g.1213563T>C (hg19) chr5:g.1213448T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213448T>C , CM000667.2:g.1213448T>C GRCh38
NC_000005.9:g.1213563T>C , CM000667.1:g.1213563T>C GRCh37
NC_000005.8:g.1266563T>C NCBI36
NG_008282.1:g.16854T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-15T>C MANE Select ENSP00000305302.10:n.664-15T>C
ENST00000304460.10:c.664-15T>C ENSP00000305302.10:n.664-15T>C
ENST00000515652.5:c.572-15T>C ENSP00000425701.1:n.572-15T>C
NM_001003841.2:c.664-15T>C NP_001003841.1:n.664-15T>C
NM_001003841.3:c.664-15T>C MANE Select NP_001003841.1:n.664-15T>C
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