Canonical Allele Identifier: CA101434181
Gene: FAM13A HGNC NCBI

Linked Data

dbSNP Id: rs16996151
gnomAD v2: 4-89978800-C-A
gnomAD v3: 4-89057649-C-A
gnomAD v4: 4-89057649-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89057649C>A , CM000666.2:g.89057649C>A GRCh38
NC_000004.11:g.89978800C>A , CM000666.1:g.89978800C>A GRCh37
NC_000004.10:g.90197823C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000502459.5:n.358-28000G>T
XM_005262682.2:c.-33-28000G>T XP_005262739.1:n.-33-28000G>T
XM_011531518.1:c.-659-28000G>T XP_011529820.1:n.-659-28000G>T
XM_017007627.1:c.-422-28000G>T XP_016863116.1:n.-422-28000G>T