Canonical Allele Identifier: CA970390880

Gene: FAM81A

Linked Data

• dbSNP Id: rs2081161580
• gnomAD v3: 15-59419537-C-T
• gnomAD v4: 15-59419537-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.59419537C>T , CM000677.2:g.59419537C>T	GRCh38
NC_000015.9:g.59711736C>T , CM000677.1:g.59711736C>T	GRCh37
NC_000015.8:g.57499028C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000558348.5:c.-78+17179C>T	ENSP00000453918.1:n.-78+17179C>T
ENST00000560394.5:c.-78+17179C>T	ENSP00000452962.1:n.-78+17179C>T
XM_006720399.1:c.-78+17179C>T	XP_006720462.1:n.-78+17179C>T
XM_011521248.1:c.-22+17179C>T	XP_011519550.1:n.-22+17179C>T
XM_011521248.2:c.-22+17179C>T	XP_011519550.1:n.-22+17179C>T