Canonical Allele Identifier: CA802930067
Gene: SLC6A19 HGNC NCBI

Linked Data

dbSNP Id: rs1441855366
gnomAD v3: 5-1212951-A-G
gnomAD v4: 5-1212951-A-G
MyVariant Identifiers: chr5:g.1213066A>G (hg19) chr5:g.1212951A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1212951A>G , CM000667.2:g.1212951A>G GRCh38
NC_000005.9:g.1213066A>G , CM000667.1:g.1213066A>G GRCh37
NC_000005.8:g.1266066A>G NCBI36
NG_008282.1:g.16357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304460.11:c.663+467A>G MANE Select ENSP00000305302.10:n.663+467A>G
ENST00000304460.10:c.663+467A>G ENSP00000305302.10:n.663+467A>G
ENST00000515652.5:c.571+467A>G ENSP00000425701.1:n.571+467A>G
NM_001003841.2:c.663+467A>G NP_001003841.1:n.663+467A>G
NM_001003841.3:c.663+467A>G MANE Select NP_001003841.1:n.663+467A>G
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