Canonical Allele Identifier: CA112941814
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs922190712
gnomAD v2: 5-1213883-T-G
gnomAD v3: 5-1213768-T-G
gnomAD v4: 5-1213768-T-G
MyVariant Identifiers: chr5:g.1213883T>G (hg19) chr5:g.1213768T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213768T>G , CM000667.2:g.1213768T>G GRCh38
NC_000005.9:g.1213883T>G , CM000667.1:g.1213883T>G GRCh37
NC_000005.8:g.1266883T>G NCBI36
NG_008282.1:g.17174T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-185T>G MANE Select ENSP00000305302.10:n.775-185T>G
ENST00000304460.10:c.775-185T>G ENSP00000305302.10:n.775-185T>G
ENST00000515652.5:c.683-185T>G ENSP00000425701.1:n.683-185T>G
NM_001003841.2:c.775-185T>G NP_001003841.1:n.775-185T>G
NM_001003841.3:c.775-185T>G MANE Select NP_001003841.1:n.775-185T>G
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