Canonical Allele Identifier: CA3182838
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476735
ClinVar RCV Id: RCV002014896 RCV002497933
dbSNP Id: rs141497538
ExAC: 5:1213602 C / T
gnomAD v2: 5-1213602-C-T
gnomAD v3: 5-1213487-C-T
gnomAD v4: 5-1213487-C-T
MyVariant Identifiers: chr5:g.1213602C>T (hg19) chr5:g.1213487C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213487C>T , CM000667.2:g.1213487C>T GRCh38
NC_000005.9:g.1213602C>T , CM000667.1:g.1213602C>T GRCh37
NC_000005.8:g.1266602C>T NCBI36
NG_008282.1:g.16893C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.688C>T MANE Select ENSP00000305302.10:p.Pro230Ser
ENST00000304460.10:c.688C>T ENSP00000305302.10:p.Pro230Ser
ENST00000515652.5:c.596C>T ENSP00000425701.1:p.Ala199Val
NM_001003841.2:c.688C>T NP_001003841.1:p.Pro230Ser
NM_001003841.3:c.688C>T MANE Select NP_001003841.1:p.Pro230Ser
Search 100 bp 5'
Search 100 bp 3'