Canonical Allele Identifier: CA565221503
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs1213555464
gnomAD v2: 6-3837204-G-A
gnomAD v3: 6-3836970-G-A
gnomAD v4: 6-3836970-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3836970G>A , CM000668.2:g.3836970G>A GRCh38
NC_000006.11:g.3837204G>A , CM000668.1:g.3837204G>A GRCh37
NC_000006.10:g.3782203G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+4959G>A XP_016866218.1:n.-24+4959G>A