Canonical Allele Identifier: CA133776329
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs992050402
gnomAD v2: 6-3837235-A-G
gnomAD v3: 6-3837001-A-G
gnomAD v4: 6-3837001-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3837001A>G , CM000668.2:g.3837001A>G GRCh38
NC_000006.11:g.3837235A>G , CM000668.1:g.3837235A>G GRCh37
NC_000006.10:g.3782234A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+4990A>G XP_016866218.1:n.-24+4990A>G