Canonical Allele Identifier: CA1522520259
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213487C= , CM000667.2:g.1213487C= GRCh38
NC_000005.9:g.1213602C= , CM000667.1:g.1213602C= GRCh37
NC_000005.8:g.1266602C= NCBI36
NG_008282.1:g.16893C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.688C= MANE Select ENSP00000305302.10:p.Pro230=
ENST00000304460.10:c.688C= ENSP00000305302.10:p.Pro230=
ENST00000515652.5:c.596C= ENSP00000425701.1:p.Ala199=
NM_001003841.2:c.688C= NP_001003841.1:p.Pro230=
NM_001003841.3:c.688C= MANE Select NP_001003841.1:p.Pro230=
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