Canonical Allele Identifier: CA1072493435
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746124230
gnomAD v3: 5-1213846-A-T
gnomAD v4: 5-1213846-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213846A>T , CM000667.2:g.1213846A>T GRCh38
NC_000005.9:g.1213961A>T , CM000667.1:g.1213961A>T GRCh37
NC_000005.8:g.1266961A>T NCBI36
NG_008282.1:g.17252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-107A>T MANE Select ENSP00000305302.10:n.775-107A>T
ENST00000304460.10:c.775-107A>T ENSP00000305302.10:n.775-107A>T
ENST00000515652.5:c.683-107A>T ENSP00000425701.1:n.683-107A>T
NM_001003841.2:c.775-107A>T NP_001003841.1:n.775-107A>T
NM_001003841.3:c.775-107A>T MANE Select NP_001003841.1:n.775-107A>T
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Search 100 bp 3'