Canonical Allele Identifier: CA557557243

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1191852009
• gnomAD v2: 5-1213480-CATGCCCCGCCCCCAT-C
• gnomAD v3: 5-1213365-CATGCCCCGCCCCCAT-C
• gnomAD v4: 5-1213365-CATGCCCCGCCCCCAT-C
• MyVariant Identifiers: chr5:g.1213481_1213495del (hg19) ; chr5:g.1213366_1213380del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213380_1213394del , CM000667.2:g.1213380_1213394del	GRCh38
NC_000005.9:g.1213495_1213509del , CM000667.1:g.1213495_1213509del	GRCh37
NC_000005.8:g.1266495_1266509del	NCBI36
NG_008282.1:g.16786_16800del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.664-83_664-69del MANE Select	ENSP00000305302.10:n.664-83_664-69del
ENST00000304460.10:c.664-83_664-69del	ENSP00000305302.10:n.664-83_664-69del
ENST00000515652.5:c.572-83_572-69del	ENSP00000425701.1:n.572-83_572-69del
NM_001003841.2:c.664-83_664-69del	NP_001003841.1:n.664-83_664-69del
NM_001003841.3:c.664-83_664-69del MANE Select	NP_001003841.1:n.664-83_664-69del