Canonical Allele Identifier: CA112941903
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs376756616
gnomAD v2: 5-1213950-G-A
gnomAD v3: 5-1213835-G-A
gnomAD v4: 5-1213835-G-A
COSMIC: COSN1306137 COSN5068095
MyVariant Identifiers: chr5:g.1213950G>A (hg19) chr5:g.1213835G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1213835G>A , CM000667.2:g.1213835G>A GRCh38
NC_000005.9:g.1213950G>A , CM000667.1:g.1213950G>A GRCh37
NC_000005.8:g.1266950G>A NCBI36
NG_008282.1:g.17241G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.775-118G>A MANE Select ENSP00000305302.10:n.775-118G>A
ENST00000304460.10:c.775-118G>A ENSP00000305302.10:n.775-118G>A
ENST00000515652.5:c.683-118G>A ENSP00000425701.1:n.683-118G>A
NM_001003841.2:c.775-118G>A NP_001003841.1:n.775-118G>A
NM_001003841.3:c.775-118G>A MANE Select NP_001003841.1:n.775-118G>A
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