Canonical Allele Identifier: CA359067374
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213593T>C (hg19) chr5:g.1213478T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213478T>C , CM000667.2:g.1213478T>C GRCh38
NC_000005.9:g.1213593T>C , CM000667.1:g.1213593T>C GRCh37
NC_000005.8:g.1266593T>C NCBI36
NG_008282.1:g.16884T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.679T>C MANE Select ENSP00000305302.10:p.Ser227Pro
ENST00000304460.10:c.679T>C ENSP00000305302.10:p.Ser227Pro
ENST00000515652.5:c.587T>C ENSP00000425701.1:p.Leu196Pro
NM_001003841.2:c.679T>C NP_001003841.1:p.Ser227Pro
NM_001003841.3:c.679T>C MANE Select NP_001003841.1:p.Ser227Pro
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