Canonical Allele Identifier: CA883025795

Gene: FAM83E

Linked Data

• dbSNP Id: rs767503363
• gnomAD v3: 19-48615131-G-C
• gnomAD v4: 19-48615131-G-C
• MyVariant Identifiers: chr19:g.49118388G>C (hg19) ; chr19:g.48615131G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48615131G>C , CM000681.2:g.48615131G>C	GRCh38
NC_000019.9:g.49118388G>C , CM000681.1:g.49118388G>C	GRCh37
NC_000019.8:g.53810200G>C	NCBI36
NG_029867.1:g.841G>C

Transcript Alleles

HGVS	Amino-acid change
XM_024451561.1:c.-1578C>G	XP_024307329.1:n.-1578C>G