Canonical Allele Identifier: CA112941158
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs946880025
gnomAD v2: 5-1213070-GC-G
gnomAD v3: 5-1212955-GC-G
gnomAD v4: 5-1212955-GC-G
MyVariant Identifiers: chr5:g.1213071del (hg19) chr5:g.1212956del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212961del , CM000667.2:g.1212961del GRCh38
NC_000005.9:g.1213076del , CM000667.1:g.1213076del GRCh37
NC_000005.8:g.1266076del NCBI36
NG_008282.1:g.16367del

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+477del MANE Select ENSP00000305302.10:n.663+477del
ENST00000304460.10:c.663+477del ENSP00000305302.10:n.663+477del
ENST00000515652.5:c.571+477del ENSP00000425701.1:n.571+477del
NM_001003841.2:c.663+477del NP_001003841.1:n.663+477del
NM_001003841.3:c.663+477del MANE Select NP_001003841.1:n.663+477del
Search 100 bp 5'
Search 100 bp 3'