Canonical Allele Identifier: CA802930781

Gene: SLC6A19

Linked Data

• dbSNP Id: rs1396379872
• MyVariant Identifiers: chr5:g.1213687_1213688insCC (hg19) ; chr5:g.1213572_1213573insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1213573_1213574insCC , CM000667.2:g.1213573_1213574insCC	GRCh38
NC_000005.9:g.1213688_1213689insCC , CM000667.1:g.1213688_1213689insCC	GRCh37
NC_000005.8:g.1266688_1266689insCC	NCBI36
NG_008282.1:g.16979_16980insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304460.11:c.774_774+1insCC MANE Select	ENSP00000305302.10:p.Val259ProfsTer?
ENST00000304460.10:c.774_774+1insCC	ENSP00000305302.10:p.Val259ProfsTer?
ENST00000515652.5:c.682_682+1insCC	ENSP00000425701.1:p.Arg228ProfsTer?
NM_001003841.2:c.774_774+1insCC	NP_001003841.1:p.Val259ProfsTer?
NM_001003841.3:c.774_774+1insCC MANE Select	NP_001003841.1:p.Val259ProfsTer?