Canonical Allele Identifier: CA802930063
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1343607369
gnomAD v3: 5-1212936-G-A
gnomAD v4: 5-1212936-G-A
MyVariant Identifiers: chr5:g.1213051G>A (hg19) chr5:g.1212936G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212936G>A , CM000667.2:g.1212936G>A GRCh38
NC_000005.9:g.1213051G>A , CM000667.1:g.1213051G>A GRCh37
NC_000005.8:g.1266051G>A NCBI36
NG_008282.1:g.16342G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+452G>A MANE Select ENSP00000305302.10:n.663+452G>A
ENST00000304460.10:c.663+452G>A ENSP00000305302.10:n.663+452G>A
ENST00000515652.5:c.571+452G>A ENSP00000425701.1:n.571+452G>A
NM_001003841.2:c.663+452G>A NP_001003841.1:n.663+452G>A
NM_001003841.3:c.663+452G>A MANE Select NP_001003841.1:n.663+452G>A
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