Canonical Allele Identifier: CA1072491962
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212990-T-C
gnomAD v4: 5-1212990-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212990T>C , CM000667.2:g.1212990T>C GRCh38
NC_000005.9:g.1213105T>C , CM000667.1:g.1213105T>C GRCh37
NC_000005.8:g.1266105T>C NCBI36
NG_008282.1:g.16396T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-473T>C MANE Select ENSP00000305302.10:n.664-473T>C
ENST00000304460.10:c.664-473T>C ENSP00000305302.10:n.664-473T>C
ENST00000515652.5:c.572-473T>C ENSP00000425701.1:n.572-473T>C
NM_001003841.2:c.664-473T>C NP_001003841.1:n.664-473T>C
NM_001003841.3:c.664-473T>C MANE Select NP_001003841.1:n.664-473T>C
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