Canonical Allele Identifier: CA2673072158

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213360-C-CCCCCCCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213363_1213364insCCCATCCC , CM000667.2:g.1213363_1213364insCCCATCCC	GRCh38
NC_000005.9:g.1213478_1213479insCCCATCCC , CM000667.1:g.1213478_1213479insCCCATCCC	GRCh37
NC_000005.8:g.1266478_1266479insCCCATCCC	NCBI36
NG_008282.1:g.16769_16770insCCCATCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-100_664-99insCCCATCCC MANE Select	ENSP00000305302.10:n.664-100_664-99insCCCATCCC
ENST00000304460.10:c.664-100_664-99insCCCATCCC	ENSP00000305302.10:n.664-100_664-99insCCCATCCC
ENST00000515652.5:c.572-100_572-99insCCCATCCC	ENSP00000425701.1:n.572-100_572-99insCCCATCCC
NM_001003841.2:c.664-100_664-99insCCCATCCC	NP_001003841.1:n.664-100_664-99insCCCATCCC
NM_001003841.3:c.664-100_664-99insCCCATCCC MANE Select	NP_001003841.1:n.664-100_664-99insCCCATCCC