Canonical Allele Identifier: CA557557354
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1239247153
gnomAD v2: 5-1213691-A-C
gnomAD v4: 5-1213576-A-C
MyVariant Identifiers: chr5:g.1213691A>C (hg19) chr5:g.1213576A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213576A>C , CM000667.2:g.1213576A>C GRCh38
NC_000005.9:g.1213691A>C , CM000667.1:g.1213691A>C GRCh37
NC_000005.8:g.1266691A>C NCBI36
NG_008282.1:g.16982A>C

Transcript Alleles

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