Canonical Allele Identifier: CA802930952
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1172586082
gnomAD v3: 5-1213758-C-G
gnomAD v4: 5-1213758-C-G
MyVariant Identifiers: chr5:g.1213873C>G (hg19) chr5:g.1213758C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213758C>G , CM000667.2:g.1213758C>G GRCh38
NC_000005.9:g.1213873C>G , CM000667.1:g.1213873C>G GRCh37
NC_000005.8:g.1266873C>G NCBI36
NG_008282.1:g.17164C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+185C>G MANE Select ENSP00000305302.10:n.774+185C>G
ENST00000304460.10:c.774+185C>G ENSP00000305302.10:n.774+185C>G
ENST00000515652.5:c.682+185C>G ENSP00000425701.1:n.682+185C>G
NM_001003841.2:c.774+185C>G NP_001003841.1:n.774+185C>G
NM_001003841.3:c.774+185C>G MANE Select NP_001003841.1:n.774+185C>G
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