Canonical Allele Identifier: CA2673072220

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213378-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213379_1213380insAAA , CM000667.2:g.1213379_1213380insAAA	GRCh38
NC_000005.9:g.1213494_1213495insAAA , CM000667.1:g.1213494_1213495insAAA	GRCh37
NC_000005.8:g.1266494_1266495insAAA	NCBI36
NG_008282.1:g.16785_16786insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-84_664-83insAAA MANE Select	ENSP00000305302.10:n.664-84_664-83insAAA
ENST00000304460.10:c.664-84_664-83insAAA	ENSP00000305302.10:n.664-84_664-83insAAA
ENST00000515652.5:c.572-84_572-83insAAA	ENSP00000425701.1:n.572-84_572-83insAAA
NM_001003841.2:c.664-84_664-83insAAA	NP_001003841.1:n.664-84_664-83insAAA
NM_001003841.3:c.664-84_664-83insAAA MANE Select	NP_001003841.1:n.664-84_664-83insAAA