Canonical Allele Identifier: CA802930375
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1442982538
gnomAD v4: 5-1213411-CA-C
MyVariant Identifiers: chr5:g.1213527del (hg19) chr5:g.1213412del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213412del , CM000667.2:g.1213412del GRCh38
NC_000005.9:g.1213527del , CM000667.1:g.1213527del GRCh37
NC_000005.8:g.1266527del NCBI36
NG_008282.1:g.16818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-51del MANE Select ENSP00000305302.10:n.664-51del
ENST00000304460.10:c.664-51del ENSP00000305302.10:n.664-51del
ENST00000515652.5:c.572-51del ENSP00000425701.1:n.572-51del
NM_001003841.2:c.664-51del NP_001003841.1:n.664-51del
NM_001003841.3:c.664-51del MANE Select NP_001003841.1:n.664-51del
Search 100 bp 5'
Search 100 bp 3'