Canonical Allele Identifier: CA557557186

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1269084040
• gnomAD v2: 5-1213121-TCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG-T
• gnomAD v3: 5-1213006-TCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG-T
• gnomAD v4: 5-1213006-TCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCG-T
• MyVariant Identifiers: chr5:g.1213122_1213168del (hg19) ; chr5:g.1213007_1213053del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213022_1213068del , CM000667.2:g.1213022_1213068del	GRCh38
NC_000005.9:g.1213137_1213183del , CM000667.1:g.1213137_1213183del	GRCh37
NC_000005.8:g.1266137_1266183del	NCBI36
NG_008282.1:g.16428_16474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-441_664-395del MANE Select	ENSP00000305302.10:n.664-441_664-395del
ENST00000304460.10:c.664-441_664-395del	ENSP00000305302.10:n.664-441_664-395del
ENST00000515652.5:c.572-441_572-395del	ENSP00000425701.1:n.572-441_572-395del
NM_001003841.2:c.664-441_664-395del	NP_001003841.1:n.664-441_664-395del
NM_001003841.3:c.664-441_664-395del MANE Select	NP_001003841.1:n.664-441_664-395del