Canonical Allele Identifier: CA133776327
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs531114056
gnomAD v2: 6-3837211-G-A
gnomAD v3: 6-3836977-G-A
gnomAD v4: 6-3836977-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3836977G>A , CM000668.2:g.3836977G>A GRCh38
NC_000006.11:g.3837211G>A , CM000668.1:g.3837211G>A GRCh37
NC_000006.10:g.3782210G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+4966G>A XP_016866218.1:n.-24+4966G>A