Canonical Allele Identifier: CA1522520357
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213566C= , CM000667.2:g.1213566C= GRCh38
NC_000005.9:g.1213681C= , CM000667.1:g.1213681C= GRCh37
NC_000005.8:g.1266681C= NCBI36
NG_008282.1:g.16972C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.767C= MANE Select ENSP00000305302.10:p.Thr256=
ENST00000304460.10:c.767C= ENSP00000305302.10:p.Thr256=
ENST00000515652.5:c.675C= ENSP00000425701.1:p.His225=
NM_001003841.2:c.767C= NP_001003841.1:p.Thr256=
NM_001003841.3:c.767C= MANE Select NP_001003841.1:p.Thr256=
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