Canonical Allele Identifier: CA1522520345
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213552C= , CM000667.2:g.1213552C= GRCh38
NC_000005.9:g.1213667C= , CM000667.1:g.1213667C= GRCh37
NC_000005.8:g.1266667C= NCBI36
NG_008282.1:g.16958C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.753C= MANE Select ENSP00000305302.10:p.Ile251=
ENST00000304460.10:c.753C= ENSP00000305302.10:p.Ile251=
ENST00000515652.5:c.661C= ENSP00000425701.1:p.Arg221=
NM_001003841.2:c.753C= NP_001003841.1:p.Ile251=
NM_001003841.3:c.753C= MANE Select NP_001003841.1:p.Ile251=
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