Canonical Allele Identifier: CA463520131
Gene: FAM83H HGNC NCBI

Linked Data

dbSNP Id: rs1818401602
MyVariant Identifiers: chr8:g.144810818G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728648G>A , CM000670.2:g.143728648G>A GRCh38
NC_000008.10:g.144810818G>A , CM000670.1:g.144810818G>A GRCh37
NC_000008.9:g.144882806G>A NCBI36
NG_016652.1:g.10097C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.813C>T MANE Select ENSP00000373565.3:p.Asp271=
ENST00000650760.1:c.1416C>T ENSP00000499217.1:p.Asp472=
ENST00000388913.3:c.813C>T ENSP00000373565.3:p.Asp271=
NM_198488.3:c.813C>T NP_940890.3:p.Asp271=
XM_005250887.2:c.870C>T XP_005250944.1:p.Asp290=
XM_005250888.2:c.831C>T XP_005250945.1:p.Asp277=
XM_005250889.2:c.813C>T XP_005250946.1:p.Asp271=
XM_011516980.1:c.1134C>T XP_011515282.1:p.Asp378=
XM_011516981.1:c.981C>T XP_011515283.1:p.Asp327=
XM_005250887.3:c.870C>T XP_005250944.1:p.Asp290=
XM_005250888.3:c.831C>T XP_005250945.1:p.Asp277=
XM_005250889.3:c.813C>T XP_005250946.1:p.Asp271=
XM_011516980.2:c.1416C>T XP_011515282.2:p.Asp472=
XM_011516981.2:c.981C>T XP_011515283.1:p.Asp327=
XM_024447131.1:c.813C>T XP_024302899.1:p.Asp271=
NM_198488.4:c.813C>T NP_940890.3:p.Asp271=
NM_198488.5:c.813C>T MANE Select NP_940890.4:p.Asp271=