Canonical Allele Identifier: CA443019056
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1278767684
gnomAD v2: 5-1213589-C-T
gnomAD v4: 5-1213474-C-T
MyVariant Identifiers: chr5:g.1213589C>T (hg19) chr5:g.1213474C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213474C>T , CM000667.2:g.1213474C>T GRCh38
NC_000005.9:g.1213589C>T , CM000667.1:g.1213589C>T GRCh37
NC_000005.8:g.1266589C>T NCBI36
NG_008282.1:g.16880C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.675C>T MANE Select ENSP00000305302.10:p.Ile225=
ENST00000304460.10:c.675C>T ENSP00000305302.10:p.Ile225=
ENST00000515652.5:c.583C>T ENSP00000425701.1:p.His195Tyr
NM_001003841.2:c.675C>T NP_001003841.1:p.Ile225=
NM_001003841.3:c.675C>T MANE Select NP_001003841.1:p.Ile225=
Search 100 bp 5'
Search 100 bp 3'