Canonical Allele Identifier: CA112941467
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs901169831
MyVariant Identifiers: chr5:g.1213626C>G (hg19) chr5:g.1213511C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213511C>G , CM000667.2:g.1213511C>G GRCh38
NC_000005.9:g.1213626C>G , CM000667.1:g.1213626C>G GRCh37
NC_000005.8:g.1266626C>G NCBI36
NG_008282.1:g.16917C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.712C>G MANE Select ENSP00000305302.10:p.Leu238Val
ENST00000304460.10:c.712C>G ENSP00000305302.10:p.Leu238Val
ENST00000515652.5:c.620C>G ENSP00000425701.1:p.Pro207Arg
NM_001003841.2:c.712C>G NP_001003841.1:p.Leu238Val
NM_001003841.3:c.712C>G MANE Select NP_001003841.1:p.Leu238Val
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Search 100 bp 3'