Canonical Allele Identifier: CA1072491847
Gene: SLC6A19 HGNC NCBI

Linked Data

gnomAD v3: 5-1212958-C-CTGT
gnomAD v4: 5-1212958-C-CTGT
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212958_1212959insTGT , CM000667.2:g.1212958_1212959insTGT GRCh38
NC_000005.9:g.1213073_1213074insTGT , CM000667.1:g.1213073_1213074insTGT GRCh37
NC_000005.8:g.1266073_1266074insTGT NCBI36
NG_008282.1:g.16364_16365insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+474_663+475insTGT MANE Select ENSP00000305302.10:n.663+474_663+475insTGT
ENST00000304460.10:c.663+474_663+475insTGT ENSP00000305302.10:n.663+474_663+475insTGT
ENST00000515652.5:c.571+474_571+475insTGT ENSP00000425701.1:n.571+474_571+475insTGT
NM_001003841.2:c.663+474_663+475insTGT NP_001003841.1:n.663+474_663+475insTGT
NM_001003841.3:c.663+474_663+475insTGT MANE Select NP_001003841.1:n.663+474_663+475insTGT
Search 100 bp 5'
Search 100 bp 3'