Canonical Allele Identifier: CA112941963
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs187447008
gnomAD v2: 5-1213994-C-T
gnomAD v3: 5-1213879-C-T
gnomAD v4: 5-1213879-C-T
MyVariant Identifiers: chr5:g.1213994C>T (hg19) chr5:g.1213879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213879C>T , CM000667.2:g.1213879C>T GRCh38
NC_000005.9:g.1213994C>T , CM000667.1:g.1213994C>T GRCh37
NC_000005.8:g.1266994C>T NCBI36
NG_008282.1:g.17285C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-74C>T MANE Select ENSP00000305302.10:n.775-74C>T
ENST00000304460.10:c.775-74C>T ENSP00000305302.10:n.775-74C>T
ENST00000515652.5:c.683-74C>T ENSP00000425701.1:n.683-74C>T
NM_001003841.2:c.775-74C>T NP_001003841.1:n.775-74C>T
NM_001003841.3:c.775-74C>T MANE Select NP_001003841.1:n.775-74C>T
Search 100 bp 5'
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