Canonical Allele Identifier: CA1522520269
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213496G= , CM000667.2:g.1213496G= GRCh38
NC_000005.9:g.1213611G= , CM000667.1:g.1213611G= GRCh37
NC_000005.8:g.1266611G= NCBI36
NG_008282.1:g.16902G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.697G= MANE Select ENSP00000305302.10:p.Val233=
ENST00000304460.10:c.697G= ENSP00000305302.10:p.Val233=
ENST00000515652.5:c.605G= ENSP00000425701.1:p.Arg202=
NM_001003841.2:c.697G= NP_001003841.1:p.Val233=
NM_001003841.3:c.697G= MANE Select NP_001003841.1:p.Val233=
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