Canonical Allele Identifier: CA1072493006
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746104005
gnomAD v3: 5-1213369-CCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT-C
gnomAD v4: 5-1213369-CCCCGCCCCCATATGCCCCGCCCCCACGTGCCGCCCCCACCGCATGCCTGGCCCCCCAACTTCCCGCCCATCCCACATGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213377_1213455del , CM000667.2:g.1213377_1213455del GRCh38
NC_000005.9:g.1213492_1213570del , CM000667.1:g.1213492_1213570del GRCh37
NC_000005.8:g.1266492_1266570del NCBI36
NG_008282.1:g.16783_16861del

Transcript Alleles

HGVS Amino-acid change
ENST00000304460.11:c.664-86_664-8del MANE Select ENSP00000305302.10:n.664-86_664-8del
ENST00000304460.10:c.664-86_664-8del ENSP00000305302.10:n.664-86_664-8del
ENST00000515652.5:c.572-86_572-8del ENSP00000425701.1:n.572-86_572-8del
NM_001003841.2:c.664-86_664-8del NP_001003841.1:n.664-86_664-8del
NM_001003841.3:c.664-86_664-8del MANE Select NP_001003841.1:n.664-86_664-8del
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