Canonical Allele Identifier: CA443019131
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213644C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213529C>T , CM000667.2:g.1213529C>T GRCh38
NC_000005.9:g.1213644C>T , CM000667.1:g.1213644C>T GRCh37
NC_000005.8:g.1266644C>T NCBI36
NG_008282.1:g.16935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.730C>T MANE Select ENSP00000305302.10:p.Leu244=
ENST00000304460.10:c.730C>T ENSP00000305302.10:p.Leu244=
ENST00000515652.5:c.638C>T ENSP00000425701.1:p.Ala213Val
NM_001003841.2:c.730C>T NP_001003841.1:p.Leu244=
NM_001003841.3:c.730C>T MANE Select NP_001003841.1:p.Leu244=
Search 100 bp 5'
Search 100 bp 3'