Canonical Allele Identifier: CA1072492062

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746088579
• gnomAD v3: 5-1213019-GC-G
• gnomAD v4: 5-1213019-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213025del , CM000667.2:g.1213025del	GRCh38
NC_000005.9:g.1213140del , CM000667.1:g.1213140del	GRCh37
NC_000005.8:g.1266140del	NCBI36
NG_008282.1:g.16431del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-438del MANE Select	ENSP00000305302.10:n.664-438del
ENST00000304460.10:c.664-438del	ENSP00000305302.10:n.664-438del
ENST00000515652.5:c.572-438del	ENSP00000425701.1:n.572-438del
NM_001003841.2:c.664-438del	NP_001003841.1:n.664-438del
NM_001003841.3:c.664-438del MANE Select	NP_001003841.1:n.664-438del