Canonical Allele Identifier: CA2673072219

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213378-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213378_1213379insCA , CM000667.2:g.1213378_1213379insCA	GRCh38
NC_000005.9:g.1213493_1213494insCA , CM000667.1:g.1213493_1213494insCA	GRCh37
NC_000005.8:g.1266493_1266494insCA	NCBI36
NG_008282.1:g.16784_16785insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-85_664-84insCA MANE Select	ENSP00000305302.10:n.664-85_664-84insCA
ENST00000304460.10:c.664-85_664-84insCA	ENSP00000305302.10:n.664-85_664-84insCA
ENST00000515652.5:c.572-85_572-84insCA	ENSP00000425701.1:n.572-85_572-84insCA
NM_001003841.2:c.664-85_664-84insCA	NP_001003841.1:n.664-85_664-84insCA
NM_001003841.3:c.664-85_664-84insCA MANE Select	NP_001003841.1:n.664-85_664-84insCA