Canonical Allele Identifier: CA1072493026
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213382-T-TGCCCCGCCCCCACGTGCC
gnomAD v4: 5-1213382-T-TGCCCCGCCCCCACGTGCC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213388_1213405dup , CM000667.2:g.1213388_1213405dup GRCh38
NC_000005.9:g.1213503_1213520dup , CM000667.1:g.1213503_1213520dup GRCh37
NC_000005.8:g.1266503_1266520dup NCBI36
NG_008282.1:g.16794_16811dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-75_664-58dup MANE Select ENSP00000305302.10:n.664-75_664-58dup
ENST00000304460.10:c.664-75_664-58dup ENSP00000305302.10:n.664-75_664-58dup
ENST00000515652.5:c.572-75_572-58dup ENSP00000425701.1:n.572-75_572-58dup
NM_001003841.2:c.664-75_664-58dup NP_001003841.1:n.664-75_664-58dup
NM_001003841.3:c.664-75_664-58dup MANE Select NP_001003841.1:n.664-75_664-58dup
Search 100 bp 5'
Search 100 bp 3'