Canonical Allele Identifier: CA2519951632
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213749G>T , CM000667.2:g.1213749G>T GRCh38
NC_000005.9:g.1213864G>T , CM000667.1:g.1213864G>T GRCh37
NC_000005.8:g.1266864G>T NCBI36
NG_008282.1:g.17155G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.774+176G>T MANE Select ENSP00000305302.10:n.774+176G>T
ENST00000304460.10:c.774+176G>T ENSP00000305302.10:n.774+176G>T
ENST00000515652.5:c.682+176G>T ENSP00000425701.1:n.682+176G>T
NM_001003841.2:c.774+176G>T NP_001003841.1:n.774+176G>T
NM_001003841.3:c.774+176G>T MANE Select NP_001003841.1:n.774+176G>T
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