Canonical Allele Identifier: CA248449
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 208186
ClinVar RCV Id: RCV000190382
dbSNP Id: rs796064507
gnomAD v4: 5-1201796-G-A
MyVariant Identifiers: chr5:g.1201911G>A (hg19) chr5:g.1201796G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1201796G>A , CM000667.2:g.1201796G>A GRCh38
NC_000005.9:g.1201911G>A , CM000667.1:g.1201911G>A GRCh37
NC_000005.8:g.1254911G>A NCBI36
NG_008282.1:g.5202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.146G>A MANE Select ENSP00000305302.10:p.Cys49Tyr
ENST00000304460.10:c.146G>A ENSP00000305302.10:p.Cys49Tyr
ENST00000515652.5:c.146G>A ENSP00000425701.1:p.Cys49Tyr
NM_001003841.2:c.146G>A NP_001003841.1:p.Cys49Tyr
NM_001003841.3:c.146G>A MANE Select NP_001003841.1:p.Cys49Tyr
Search 100 bp 5'
Search 100 bp 3'