Canonical Allele Identifier: CA1522520333
Gene: SLC6A19 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213531G= , CM000667.2:g.1213531G= GRCh38
NC_000005.9:g.1213646G= , CM000667.1:g.1213646G= GRCh37
NC_000005.8:g.1266646G= NCBI36
NG_008282.1:g.16937G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.732G= MANE Select ENSP00000305302.10:p.Leu244=
ENST00000304460.10:c.732G= ENSP00000305302.10:p.Leu244=
ENST00000515652.5:c.640G= ENSP00000425701.1:p.Glu214=
NM_001003841.2:c.732G= NP_001003841.1:p.Leu244=
NM_001003841.3:c.732G= MANE Select NP_001003841.1:p.Leu244=
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