Canonical Allele Identifier: CA1072493123
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1746107305
gnomAD v3: 5-1213413-T-C
gnomAD v4: 5-1213413-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213413T>C , CM000667.2:g.1213413T>C GRCh38
NC_000005.9:g.1213528T>C , CM000667.1:g.1213528T>C GRCh37
NC_000005.8:g.1266528T>C NCBI36
NG_008282.1:g.16819T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.664-50T>C MANE Select ENSP00000305302.10:n.664-50T>C
ENST00000304460.10:c.664-50T>C ENSP00000305302.10:n.664-50T>C
ENST00000515652.5:c.572-50T>C ENSP00000425701.1:n.572-50T>C
NM_001003841.2:c.664-50T>C NP_001003841.1:n.664-50T>C
NM_001003841.3:c.664-50T>C MANE Select NP_001003841.1:n.664-50T>C
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