Canonical Allele Identifier: CA802930060
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1442929979
MyVariant Identifiers: chr5:g.1213047del (hg19) chr5:g.1212932del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212935del , CM000667.2:g.1212935del GRCh38
NC_000005.9:g.1213050del , CM000667.1:g.1213050del GRCh37
NC_000005.8:g.1266050del NCBI36
NG_008282.1:g.16341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+451del MANE Select ENSP00000305302.10:n.663+451del
ENST00000304460.10:c.663+451del ENSP00000305302.10:n.663+451del
ENST00000515652.5:c.571+451del ENSP00000425701.1:n.571+451del
NM_001003841.2:c.663+451del NP_001003841.1:n.663+451del
NM_001003841.3:c.663+451del MANE Select NP_001003841.1:n.663+451del
Search 100 bp 5'
Search 100 bp 3'