Canonical Allele Identifier: CA112941975

Gene: SLC6A19

Linked Data

• dbSNP Id: rs138649942
• MyVariant Identifiers: chr5:g.1214005_1214006insCCT (hg19) ; chr5:g.1213890_1213891insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213893_1213895dup , CM000667.2:g.1213893_1213895dup	GRCh38
NC_000005.9:g.1214008_1214010dup , CM000667.1:g.1214008_1214010dup	GRCh37
NC_000005.8:g.1267008_1267010dup	NCBI36
NG_008282.1:g.17299_17301dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.775-60_775-58dup MANE Select	ENSP00000305302.10:n.775-60_775-58dup
ENST00000304460.10:c.775-60_775-58dup	ENSP00000305302.10:n.775-60_775-58dup
ENST00000515652.5:c.683-60_683-58dup	ENSP00000425701.1:n.683-60_683-58dup
NM_001003841.2:c.775-60_775-58dup	NP_001003841.1:n.775-60_775-58dup
NM_001003841.3:c.775-60_775-58dup MANE Select	NP_001003841.1:n.775-60_775-58dup