Canonical Allele Identifier: CA3182866

Gene: SLC6A19

Linked Data

• ClinVar Variation Id: 1174952
• ClinVar RCV Id: RCV001529406 ; RCV002476847
• dbSNP Id: rs554777392
• ExAC: 5:1213689 G / A
• gnomAD v2: 5-1213689-G-A
• gnomAD v3: 5-1213574-G-A
• gnomAD v4: 5-1213574-G-A
• MyVariant Identifiers: chr5:g.1213689G>A (hg19) ; chr5:g.1213574G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213574G>A , CM000667.2:g.1213574G>A	GRCh38
NC_000005.9:g.1213689G>A , CM000667.1:g.1213689G>A	GRCh37
NC_000005.8:g.1266689G>A	NCBI36
NG_008282.1:g.16980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+1G>A MANE Select	ENSP00000305302.10:n.774+1G>A
ENST00000304460.10:c.774+1G>A	ENSP00000305302.10:n.774+1G>A
ENST00000515652.5:c.682+1G>A	ENSP00000425701.1:n.682+1G>A
NM_001003841.2:c.774+1G>A	NP_001003841.1:n.774+1G>A
NM_001003841.3:c.774+1G>A MANE Select	NP_001003841.1:n.774+1G>A