Canonical Allele Identifier: CA802930145
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1489252737
gnomAD v3: 5-1213097-G-GC
gnomAD v4: 5-1213097-G-GC
MyVariant Identifiers: chr5:g.1213212_1213213insC (hg19) chr5:g.1213097_1213098insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213103dup , CM000667.2:g.1213103dup GRCh38
NC_000005.9:g.1213218dup , CM000667.1:g.1213218dup GRCh37
NC_000005.8:g.1266218dup NCBI36
NG_008282.1:g.16509dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-360dup MANE Select ENSP00000305302.10:n.664-360dup
ENST00000304460.10:c.664-360dup ENSP00000305302.10:n.664-360dup
ENST00000515652.5:c.572-360dup ENSP00000425701.1:n.572-360dup
NM_001003841.2:c.664-360dup NP_001003841.1:n.664-360dup
NM_001003841.3:c.664-360dup MANE Select NP_001003841.1:n.664-360dup
Search 100 bp 5'
Search 100 bp 3'