Canonical Allele Identifier: CA996607992
Gene: FAM83E HGNC NCBI

Linked Data

dbSNP Id: rs1974130031
gnomAD v3: 19-48615138-G-T
gnomAD v4: 19-48615138-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48615138G>T , CM000681.2:g.48615138G>T GRCh38
NC_000019.9:g.49118395G>T , CM000681.1:g.49118395G>T GRCh37
NC_000019.8:g.53810207G>T NCBI36
NG_029867.1:g.848G>T

Transcript Alleles

HGVS Amino-acid change
XM_024451561.1:c.-1585C>A XP_024307329.1:n.-1585C>A
Search 100 bp 5'
Search 100 bp 3'