Canonical Allele Identifier: CA2518656639
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213081C>A , CM000667.2:g.1213081C>A GRCh38
NC_000005.9:g.1213196C>A , CM000667.1:g.1213196C>A GRCh37
NC_000005.8:g.1266196C>A NCBI36
NG_008282.1:g.16487C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-382C>A MANE Select ENSP00000305302.10:n.664-382C>A
ENST00000304460.10:c.664-382C>A ENSP00000305302.10:n.664-382C>A
ENST00000515652.5:c.572-382C>A ENSP00000425701.1:n.572-382C>A
NM_001003841.2:c.664-382C>A NP_001003841.1:n.664-382C>A
NM_001003841.3:c.664-382C>A MANE Select NP_001003841.1:n.664-382C>A
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