Canonical Allele Identifier: CA133776335
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs947979023
gnomAD v2: 6-3837302-A-G
gnomAD v3: 6-3837068-A-G
gnomAD v4: 6-3837068-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3837068A>G , CM000668.2:g.3837068A>G GRCh38
NC_000006.11:g.3837302A>G , CM000668.1:g.3837302A>G GRCh37
NC_000006.10:g.3782301A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+5057A>G XP_016866218.1:n.-24+5057A>G