Canonical Allele Identifier: CA3182748

Gene: SLC6A19

Linked Data

• ClinVar Variation Id: 1484107
• ClinVar RCV Id: RCV002005551 ; RCV002507750
• dbSNP Id: rs140812221
• ExAC: 5:1212438 A / G
• gnomAD v2: 5-1212438-A-G
• gnomAD v3: 5-1212323-A-G
• gnomAD v4: 5-1212323-A-G
• MyVariant Identifiers: chr5:g.1212438A>G (hg19) ; chr5:g.1212323A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212323A>G , CM000667.2:g.1212323A>G	GRCh38
NC_000005.9:g.1212438A>G , CM000667.1:g.1212438A>G	GRCh37
NC_000005.8:g.1265438A>G	NCBI36
NG_008282.1:g.15729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.502A>G MANE Select	ENSP00000305302.10:p.Arg168Gly
ENST00000304460.10:c.502A>G	ENSP00000305302.10:p.Arg168Gly
ENST00000515652.5:c.410A>G	ENSP00000425701.1:p.Gln137Arg
NM_001003841.2:c.502A>G	NP_001003841.1:p.Arg168Gly
NM_001003841.3:c.502A>G MANE Select	NP_001003841.1:p.Arg168Gly