Canonical Allele Identifier: CA1522520366

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1746114846

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213570del , CM000667.2:g.1213570del	GRCh38
NC_000005.9:g.1213685del , CM000667.1:g.1213685del	GRCh37
NC_000005.8:g.1266685del	NCBI36
NG_008282.1:g.16976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.771del MANE Select	ENSP00000305302.10:p.Asn258ThrfsTer?
ENST00000304460.10:c.771del	ENSP00000305302.10:p.Asn258ThrfsTer?
ENST00000515652.5:c.679del	ENSP00000425701.1:p.Gln227AsnfsTer?
NM_001003841.2:c.771del	NP_001003841.1:p.Asn258ThrfsTer?
NM_001003841.3:c.771del MANE Select	NP_001003841.1:p.Asn258ThrfsTer?