Canonical Allele Identifier: CA359067535
Gene: SLC6A19 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.1213626C>A (hg19) chr5:g.1213511C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213511C>A , CM000667.2:g.1213511C>A GRCh38
NC_000005.9:g.1213626C>A , CM000667.1:g.1213626C>A GRCh37
NC_000005.8:g.1266626C>A NCBI36
NG_008282.1:g.16917C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.712C>A MANE Select ENSP00000305302.10:p.Leu238Ile
ENST00000304460.10:c.712C>A ENSP00000305302.10:p.Leu238Ile
ENST00000515652.5:c.620C>A ENSP00000425701.1:p.Pro207His
NM_001003841.2:c.712C>A NP_001003841.1:p.Leu238Ile
NM_001003841.3:c.712C>A MANE Select NP_001003841.1:p.Leu238Ile
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