Canonical Allele Identifier: CA1072492144
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1213054-C-T
gnomAD v4: 5-1213054-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213054C>T , CM000667.2:g.1213054C>T GRCh38
NC_000005.9:g.1213169C>T , CM000667.1:g.1213169C>T GRCh37
NC_000005.8:g.1266169C>T NCBI36
NG_008282.1:g.16460C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-409C>T MANE Select ENSP00000305302.10:n.664-409C>T
ENST00000304460.10:c.664-409C>T ENSP00000305302.10:n.664-409C>T
ENST00000515652.5:c.572-409C>T ENSP00000425701.1:n.572-409C>T
NM_001003841.2:c.664-409C>T NP_001003841.1:n.664-409C>T
NM_001003841.3:c.664-409C>T MANE Select NP_001003841.1:n.664-409C>T
Search 100 bp 5'
Search 100 bp 3'