Canonical Allele Identifier: CA714432470

Gene: FAM81A

Linked Data

• dbSNP Id: rs1343739901
• gnomAD v3: 15-59419441-G-A
• gnomAD v4: 15-59419441-G-A
• MyVariant Identifiers: chr15:g.59711640G>A (hg19) ; chr15:g.59419441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.59419441G>A , CM000677.2:g.59419441G>A	GRCh38
NC_000015.9:g.59711640G>A , CM000677.1:g.59711640G>A	GRCh37
NC_000015.8:g.57498932G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000558348.5:c.-78+17083G>A	ENSP00000453918.1:n.-78+17083G>A
ENST00000560394.5:c.-78+17083G>A	ENSP00000452962.1:n.-78+17083G>A
XM_006720399.1:c.-78+17083G>A	XP_006720462.1:n.-78+17083G>A
XM_011521248.1:c.-22+17083G>A	XP_011519550.1:n.-22+17083G>A
XM_011521248.2:c.-22+17083G>A	XP_011519550.1:n.-22+17083G>A