Canonical Allele Identifier: CA1522520237
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213474C= , CM000667.2:g.1213474C= GRCh38
NC_000005.9:g.1213589C= , CM000667.1:g.1213589C= GRCh37
NC_000005.8:g.1266589C= NCBI36
NG_008282.1:g.16880C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.675C= MANE Select ENSP00000305302.10:p.Ile225=
ENST00000304460.10:c.675C= ENSP00000305302.10:p.Ile225=
ENST00000515652.5:c.583C= ENSP00000425701.1:p.His195=
NM_001003841.2:c.675C= NP_001003841.1:p.Ile225=
NM_001003841.3:c.675C= MANE Select NP_001003841.1:p.Ile225=
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