Canonical Allele Identifier: CA3182855
Gene: SLC6A19 HGNC NCBI

Linked Data

ClinVar Variation Id: 2210082
ClinVar RCV Id: RCV002686714
dbSNP Id: rs143099885
ExAC: 5:1213672 T / C
gnomAD v2: 5-1213672-T-C
gnomAD v3: 5-1213557-T-C
gnomAD v4: 5-1213557-T-C
MyVariant Identifiers: chr5:g.1213672T>C (hg19) chr5:g.1213557T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213557T>C , CM000667.2:g.1213557T>C GRCh38
NC_000005.9:g.1213672T>C , CM000667.1:g.1213672T>C GRCh37
NC_000005.8:g.1266672T>C NCBI36
NG_008282.1:g.16963T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.758T>C MANE Select ENSP00000305302.10:p.Phe253Ser
ENST00000304460.10:c.758T>C ENSP00000305302.10:p.Phe253Ser
ENST00000515652.5:c.666T>C ENSP00000425701.1:p.Leu222=
NM_001003841.2:c.758T>C NP_001003841.1:p.Phe253Ser
NM_001003841.3:c.758T>C MANE Select NP_001003841.1:p.Phe253Ser
Search 100 bp 5'
Search 100 bp 3'