Canonical Allele Identifier: CA3182850
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185848
ClinVar RCV Id: RCV002619851 RCV003946305
dbSNP Id: rs368423756
ExAC: 5:1213652 C / T
gnomAD v2: 5-1213652-C-T
gnomAD v3: 5-1213537-C-T
gnomAD v4: 5-1213537-C-T
MyVariant Identifiers: chr5:g.1213652C>T (hg19) chr5:g.1213537C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213537C>T , CM000667.2:g.1213537C>T GRCh38
NC_000005.9:g.1213652C>T , CM000667.1:g.1213652C>T GRCh37
NC_000005.8:g.1266652C>T NCBI36
NG_008282.1:g.16943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.738C>T MANE Select ENSP00000305302.10:p.Gly246=
ENST00000304460.10:c.738C>T ENSP00000305302.10:p.Gly246=
ENST00000515652.5:c.646C>T ENSP00000425701.1:p.Arg216Cys
NM_001003841.2:c.738C>T NP_001003841.1:p.Gly246=
NM_001003841.3:c.738C>T MANE Select NP_001003841.1:p.Gly246=
Search 100 bp 5'
Search 100 bp 3'