Canonical Allele Identifier: CA565221499
Gene: FAM50B HGNC NCBI

Linked Data

dbSNP Id: rs77240995
gnomAD v2: 6-3837149-C-T
gnomAD v3: 6-3836915-C-T
gnomAD v4: 6-3836915-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.3836915C>T , CM000668.2:g.3836915C>T GRCh38
NC_000006.11:g.3837149C>T , CM000668.1:g.3837149C>T GRCh37
NC_000006.10:g.3782148C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_017010729.1:c.-24+4904C>T XP_016866218.1:n.-24+4904C>T