Canonical Allele Identifier: CA1072492788

Gene: SLC6A19

Linked Data

• dbSNP Id: rs2126504275
• gnomAD v3: 5-1213264-ATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCC-A
• gnomAD v4: 5-1213264-ATCCCCACCCCTCCCACATGCCCTGTCCCCCCAACAGGCCTGGCCCCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213274_1213320del , CM000667.2:g.1213274_1213320del	GRCh38
NC_000005.9:g.1213389_1213435del , CM000667.1:g.1213389_1213435del	GRCh37
NC_000005.8:g.1266389_1266435del	NCBI36
NG_008282.1:g.16680_16726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-189_664-143del MANE Select	ENSP00000305302.10:n.664-189_664-143del
ENST00000304460.10:c.664-189_664-143del	ENSP00000305302.10:n.664-189_664-143del
ENST00000515652.5:c.572-189_572-143del	ENSP00000425701.1:n.572-189_572-143del
NM_001003841.2:c.664-189_664-143del	NP_001003841.1:n.664-189_664-143del
NM_001003841.3:c.664-189_664-143del MANE Select	NP_001003841.1:n.664-189_664-143del