Canonical Allele Identifier: CA3182856

Gene: SLC6A19

Linked Data

• ClinVar Variation Id: 1371534
• ClinVar RCV Id: RCV001864575 ; RCV002490065
• dbSNP Id: rs375879452
• ExAC: 5:1213681 C / T
• gnomAD v2: 5-1213681-C-T
• gnomAD v3: 5-1213566-C-T
• gnomAD v4: 5-1213566-C-T
• MyVariant Identifiers: chr5:g.1213681C>T (hg19) ; chr5:g.1213566C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213566C>T , CM000667.2:g.1213566C>T	GRCh38
NC_000005.9:g.1213681C>T , CM000667.1:g.1213681C>T	GRCh37
NC_000005.8:g.1266681C>T	NCBI36
NG_008282.1:g.16972C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.767C>T MANE Select	ENSP00000305302.10:p.Thr256Met
ENST00000304460.10:c.767C>T	ENSP00000305302.10:p.Thr256Met
ENST00000515652.5:c.675C>T	ENSP00000425701.1:p.His225=
NM_001003841.2:c.767C>T	NP_001003841.1:p.Thr256Met
NM_001003841.3:c.767C>T MANE Select	NP_001003841.1:p.Thr256Met