Canonical Allele Identifier: CA112941397
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs952672072
gnomAD v2: 5-1213584-T-A
gnomAD v3: 5-1213469-T-A
gnomAD v4: 5-1213469-T-A
MyVariant Identifiers: chr5:g.1213584T>A (hg19) chr5:g.1213469T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213469T>A , CM000667.2:g.1213469T>A GRCh38
NC_000005.9:g.1213584T>A , CM000667.1:g.1213584T>A GRCh37
NC_000005.8:g.1266584T>A NCBI36
NG_008282.1:g.16875T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.670T>A MANE Select ENSP00000305302.10:p.Tyr224Asn
ENST00000304460.10:c.670T>A ENSP00000305302.10:p.Tyr224Asn
ENST00000515652.5:c.578T>A ENSP00000425701.1:p.Val193Glu
NM_001003841.2:c.670T>A NP_001003841.1:p.Tyr224Asn
NM_001003841.3:c.670T>A MANE Select NP_001003841.1:p.Tyr224Asn
Search 100 bp 5'
Search 100 bp 3'