Canonical Allele Identifier: CA2673072248

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213389-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213389_1213390insG , CM000667.2:g.1213389_1213390insG	GRCh38
NC_000005.9:g.1213504_1213505insG , CM000667.1:g.1213504_1213505insG	GRCh37
NC_000005.8:g.1266504_1266505insG	NCBI36
NG_008282.1:g.16795_16796insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-74_664-73insG MANE Select	ENSP00000305302.10:n.664-74_664-73insG
ENST00000304460.10:c.664-74_664-73insG	ENSP00000305302.10:n.664-74_664-73insG
ENST00000515652.5:c.572-74_572-73insG	ENSP00000425701.1:n.572-74_572-73insG
NM_001003841.2:c.664-74_664-73insG	NP_001003841.1:n.664-74_664-73insG
NM_001003841.3:c.664-74_664-73insG MANE Select	NP_001003841.1:n.664-74_664-73insG