Canonical Allele Identifier: CA12222357
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs17318866
gnomAD v2: 6-3837198-G-A
gnomAD v3: 6-3836964-G-A
gnomAD v4: 6-3836964-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3836964G>A , CM000668.2:g.3836964G>A GRCh38
NC_000006.11:g.3837198G>A , CM000668.1:g.3837198G>A GRCh37
NC_000006.10:g.3782197G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XM_017010729.1:c.-24+4953G>A XP_016866218.1:n.-24+4953G>A