Canonical Allele Identifier: CA2518302077
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213792G>A , CM000667.2:g.1213792G>A GRCh38
NC_000005.9:g.1213907G>A , CM000667.1:g.1213907G>A GRCh37
NC_000005.8:g.1266907G>A NCBI36
NG_008282.1:g.17198G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-161G>A MANE Select ENSP00000305302.10:n.775-161G>A
ENST00000304460.10:c.775-161G>A ENSP00000305302.10:n.775-161G>A
ENST00000515652.5:c.683-161G>A ENSP00000425701.1:n.683-161G>A
NM_001003841.2:c.775-161G>A NP_001003841.1:n.775-161G>A
NM_001003841.3:c.775-161G>A MANE Select NP_001003841.1:n.775-161G>A
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