Canonical Allele Identifier: CA3182870
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1969159
ClinVar RCV Id: RCV002755363
dbSNP Id: rs755883163
ExAC: 5:1213699 G / C
gnomAD v2: 5-1213699-G-C
gnomAD v3: 5-1213584-G-C
gnomAD v4: 5-1213584-G-C
MyVariant Identifiers: chr5:g.1213699G>C (hg19) chr5:g.1213584G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213584G>C , CM000667.2:g.1213584G>C GRCh38
NC_000005.9:g.1213699G>C , CM000667.1:g.1213699G>C GRCh37
NC_000005.8:g.1266699G>C NCBI36
NG_008282.1:g.16990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+11G>C MANE Select ENSP00000305302.10:n.774+11G>C
ENST00000304460.10:c.774+11G>C ENSP00000305302.10:n.774+11G>C
ENST00000515652.5:c.682+11G>C ENSP00000425701.1:n.682+11G>C
NM_001003841.2:c.774+11G>C NP_001003841.1:n.774+11G>C
NM_001003841.3:c.774+11G>C MANE Select NP_001003841.1:n.774+11G>C
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