Canonical Allele Identifier: CA1072492124
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213045-A-G
gnomAD v4: 5-1213045-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213045A>G , CM000667.2:g.1213045A>G GRCh38
NC_000005.9:g.1213160A>G , CM000667.1:g.1213160A>G GRCh37
NC_000005.8:g.1266160A>G NCBI36
NG_008282.1:g.16451A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-418A>G MANE Select ENSP00000305302.10:n.664-418A>G
ENST00000304460.10:c.664-418A>G ENSP00000305302.10:n.664-418A>G
ENST00000515652.5:c.572-418A>G ENSP00000425701.1:n.572-418A>G
NM_001003841.2:c.664-418A>G NP_001003841.1:n.664-418A>G
NM_001003841.3:c.664-418A>G MANE Select NP_001003841.1:n.664-418A>G
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