Canonical Allele Identifier: CA633604267
Gene: FAM83E HGNC NCBI

Linked Data

dbSNP Id: rs1224272723
gnomAD v2: 19-49118406-G-C
gnomAD v3: 19-48615149-G-C
gnomAD v4: 19-48615149-G-C
MyVariant Identifiers: chr19:g.49118406G>C (hg19) chr19:g.48615149G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48615149G>C , CM000681.2:g.48615149G>C GRCh38
NC_000019.9:g.49118406G>C , CM000681.1:g.49118406G>C GRCh37
NC_000019.8:g.53810218G>C NCBI36
NG_029867.1:g.859G>C

Transcript Alleles

HGVS Amino-acid change
XM_024451561.1:c.-1596C>G XP_024307329.1:n.-1596C>G
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