Canonical Allele Identifier: CA557557392

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1427254144
• gnomAD v2: 5-1213728-A-G
• gnomAD v3: 5-1213613-A-G
• gnomAD v4: 5-1213613-A-G
• MyVariant Identifiers: chr5:g.1213728A>G (hg19) ; chr5:g.1213613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213613A>G , CM000667.2:g.1213613A>G	GRCh38
NC_000005.9:g.1213728A>G , CM000667.1:g.1213728A>G	GRCh37
NC_000005.8:g.1266728A>G	NCBI36
NG_008282.1:g.17019A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774+40A>G MANE Select	ENSP00000305302.10:n.774+40A>G
ENST00000304460.10:c.774+40A>G	ENSP00000305302.10:n.774+40A>G
ENST00000515652.5:c.682+40A>G	ENSP00000425701.1:n.682+40A>G
NM_001003841.2:c.774+40A>G	NP_001003841.1:n.774+40A>G
NM_001003841.3:c.774+40A>G MANE Select	NP_001003841.1:n.774+40A>G