Canonical Allele Identifier: CA883025785

Gene: FAM83E

Linked Data

• dbSNP Id: rs1348441114
• gnomAD v3: 19-48615078-C-A
• gnomAD v4: 19-48615078-C-A
• MyVariant Identifiers: chr19:g.49118335C>A (hg19) ; chr19:g.48615078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48615078C>A , CM000681.2:g.48615078C>A	GRCh38
NC_000019.9:g.49118335C>A , CM000681.1:g.49118335C>A	GRCh37
NC_000019.8:g.53810147C>A	NCBI36
NG_029867.1:g.788C>A

Transcript Alleles

HGVS	Amino-acid Change
XM_024451561.1:c.-1525G>T	XP_024307329.1:n.-1525G>T