Canonical Allele Identifier: CA509303356
Gene: SLC27A5 HGNC NCBI
ZNF446 HGNC NCBI

Linked Data

dbSNP Id: rs117766660
gnomAD v3: 19-58488005-C-G
gnomAD v4: 19-58488005-C-G
MyVariant Identifiers: chr19:g.58999372C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.58488005C>G , CM000681.2:g.58488005C>G GRCh38
NC_000019.9:g.58999372C>G , CM000681.1:g.58999372C>G GRCh37
NC_000019.8:g.63691184C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000595851.5:c.*22-4359G>C (SLC27A5) ENSP00000469512.1:n.*22-4359G>C
NM_001304453.1:c.803-1285C>G (ZNF446) NP_001291382.1:n.803-1285C>G
XM_006723266.2:c.803-1285C>G (ZNF446) XP_006723329.1:n.803-1285C>G
XM_006723266.4:c.803-1285C>G (ZNF446) XP_006723329.1:n.803-1285C>G
XM_017026950.2:c.1005-1285C>G (ZNF446) XP_016882439.1:n.1005-1285C>G
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