Canonical Allele Identifier: CA359067348
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213588T>C (hg19) chr5:g.1213473T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213473T>C , CM000667.2:g.1213473T>C GRCh38
NC_000005.9:g.1213588T>C , CM000667.1:g.1213588T>C GRCh37
NC_000005.8:g.1266588T>C NCBI36
NG_008282.1:g.16879T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.674T>C MANE Select ENSP00000305302.10:p.Ile225Thr
ENST00000304460.10:c.674T>C ENSP00000305302.10:p.Ile225Thr
ENST00000515652.5:c.582T>C ENSP00000425701.1:p.His194=
NM_001003841.2:c.674T>C NP_001003841.1:p.Ile225Thr
NM_001003841.3:c.674T>C MANE Select NP_001003841.1:p.Ile225Thr
Search 100 bp 5'
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