Canonical Allele Identifier: CA557557212

Gene: SLC6A19

Linked Data

• gnomAD v2: 5-1213258-TAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCAC-T
• gnomAD v3: 5-1213143-TAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCAC-T
• gnomAD v4: 5-1213143-TAGGCCTGGCCCCCCTCCGCACCATCCCACATACCCGGACTCCAC-T
• MyVariant Identifiers: chr5:g.1213259_1213302del (hg19) ; chr5:g.1213144_1213187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213158_1213201del , CM000667.2:g.1213158_1213201del	GRCh38
NC_000005.9:g.1213273_1213316del , CM000667.1:g.1213273_1213316del	GRCh37
NC_000005.8:g.1266273_1266316del	NCBI36
NG_008282.1:g.16564_16607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-305_664-262del MANE Select	ENSP00000305302.10:n.664-305_664-262del
ENST00000304460.10:c.664-305_664-262del	ENSP00000305302.10:n.664-305_664-262del
ENST00000515652.5:c.572-305_572-262del	ENSP00000425701.1:n.572-305_572-262del
NM_001003841.2:c.664-305_664-262del	NP_001003841.1:n.664-305_664-262del
NM_001003841.3:c.664-305_664-262del MANE Select	NP_001003841.1:n.664-305_664-262del