Canonical Allele Identifier: CA359067296
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v4: 5-1213467-T-G
MyVariant Identifiers: chr5:g.1213582T>G (hg19) chr5:g.1213467T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213467T>G , CM000667.2:g.1213467T>G GRCh38
NC_000005.9:g.1213582T>G , CM000667.1:g.1213582T>G GRCh37
NC_000005.8:g.1266582T>G NCBI36
NG_008282.1:g.16873T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.668T>G MANE Select ENSP00000305302.10:p.Val223Gly
ENST00000304460.10:c.668T>G ENSP00000305302.10:p.Val223Gly
ENST00000515652.5:c.576T>G ENSP00000425701.1:p.Arg192=
NM_001003841.2:c.668T>G NP_001003841.1:p.Val223Gly
NM_001003841.3:c.668T>G MANE Select NP_001003841.1:p.Val223Gly
Search 100 bp 5'
Search 100 bp 3'