Canonical Allele Identifier: CA2765038615
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212954T>G , CM000667.2:g.1212954T>G GRCh38
NC_000005.9:g.1213069T>G , CM000667.1:g.1213069T>G GRCh37
NC_000005.8:g.1266069T>G NCBI36
NG_008282.1:g.16360T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+470T>G MANE Select ENSP00000305302.10:n.663+470T>G
ENST00000304460.10:c.663+470T>G ENSP00000305302.10:n.663+470T>G
ENST00000515652.5:c.571+470T>G ENSP00000425701.1:n.571+470T>G
NM_001003841.2:c.663+470T>G NP_001003841.1:n.663+470T>G
NM_001003841.3:c.663+470T>G MANE Select NP_001003841.1:n.663+470T>G
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