Canonical Allele Identifier: CA1072491888

Gene: SLC6A19

Linked Data

• gnomAD v3: 5-1212971-ACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCT-A
• gnomAD v4: 5-1212971-ACGGCCCCCCTCCGCACCATCCCAAATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCACATACCCAGCCGCCCGCAGGCCCTGCCTCCCGTCCCCACCCGTCCCACATGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1212981_1213103del , CM000667.2:g.1212981_1213103del	GRCh38
NC_000005.9:g.1213096_1213218del , CM000667.1:g.1213096_1213218del	GRCh37
NC_000005.8:g.1266096_1266218del	NCBI36
NG_008282.1:g.16387_16509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-482_664-360del MANE Select	ENSP00000305302.10:n.664-482_664-360del
ENST00000304460.10:c.664-482_664-360del	ENSP00000305302.10:n.664-482_664-360del
ENST00000515652.5:c.572-482_572-360del	ENSP00000425701.1:n.572-482_572-360del
NM_001003841.2:c.664-482_664-360del	NP_001003841.1:n.664-482_664-360del
NM_001003841.3:c.664-482_664-360del MANE Select	NP_001003841.1:n.664-482_664-360del