Canonical Allele Identifier: CA443019055
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213468-G-T
MyVariant Identifiers: chr5:g.1213583G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213468G>T , CM000667.2:g.1213468G>T GRCh38
NC_000005.9:g.1213583G>T , CM000667.1:g.1213583G>T GRCh37
NC_000005.8:g.1266583G>T NCBI36
NG_008282.1:g.16874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.669G>T MANE Select ENSP00000305302.10:p.Val223=
ENST00000304460.10:c.669G>T ENSP00000305302.10:p.Val223=
ENST00000515652.5:c.577G>T ENSP00000425701.1:p.Val193Leu
NM_001003841.2:c.669G>T NP_001003841.1:p.Val223=
NM_001003841.3:c.669G>T MANE Select NP_001003841.1:p.Val223=
Search 100 bp 5'
Search 100 bp 3'