Canonical Allele Identifier: CA359067646
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs202220597
gnomAD v2: 5-1213642-C-G
gnomAD v4: 5-1213527-C-G
MyVariant Identifiers: chr5:g.1213642C>G (hg19) chr5:g.1213527C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213527C>G , CM000667.2:g.1213527C>G GRCh38
NC_000005.9:g.1213642C>G , CM000667.1:g.1213642C>G GRCh37
NC_000005.8:g.1266642C>G NCBI36
NG_008282.1:g.16933C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.728C>G MANE Select ENSP00000305302.10:p.Thr243Arg
ENST00000304460.10:c.728C>G ENSP00000305302.10:p.Thr243Arg
ENST00000515652.5:c.636C>G ENSP00000425701.1:p.Asp212Glu
NM_001003841.2:c.728C>G NP_001003841.1:p.Thr243Arg
NM_001003841.3:c.728C>G MANE Select NP_001003841.1:p.Thr243Arg
Search 100 bp 5'
Search 100 bp 3'