Canonical Allele Identifier: CA1072491984

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746087534
• gnomAD v3: 5-1212995-AATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCAC-A
• gnomAD v4: 5-1212995-AATACCCAGGCTCCCGCAGGCCCTGCCCCCCATCCCCACCCATTCCAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213004_1213050del , CM000667.2:g.1213004_1213050del	GRCh38
NC_000005.9:g.1213119_1213165del , CM000667.1:g.1213119_1213165del	GRCh37
NC_000005.8:g.1266119_1266165del	NCBI36
NG_008282.1:g.16410_16456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-459_664-413del MANE Select	ENSP00000305302.10:n.664-459_664-413del
ENST00000304460.10:c.664-459_664-413del	ENSP00000305302.10:n.664-459_664-413del
ENST00000515652.5:c.572-459_572-413del	ENSP00000425701.1:n.572-459_572-413del
NM_001003841.2:c.664-459_664-413del	NP_001003841.1:n.664-459_664-413del
NM_001003841.3:c.664-459_664-413del MANE Select	NP_001003841.1:n.664-459_664-413del