Canonical Allele Identifier: CA2673072180

Gene: SLC6A19

Linked Data

• gnomAD v4: 5-1213368-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213371_1213372dup , CM000667.2:g.1213371_1213372dup	GRCh38
NC_000005.9:g.1213486_1213487dup , CM000667.1:g.1213486_1213487dup	GRCh37
NC_000005.8:g.1266486_1266487dup	NCBI36
NG_008282.1:g.16777_16778dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-92_664-91dup MANE Select	ENSP00000305302.10:n.664-92_664-91dup
ENST00000304460.10:c.664-92_664-91dup	ENSP00000305302.10:n.664-92_664-91dup
ENST00000515652.5:c.572-92_572-91dup	ENSP00000425701.1:n.572-92_572-91dup
NM_001003841.2:c.664-92_664-91dup	NP_001003841.1:n.664-92_664-91dup
NM_001003841.3:c.664-92_664-91dup MANE Select	NP_001003841.1:n.664-92_664-91dup