Canonical Allele Identifier: CA372469360
Gene: FAM83H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728614G>A , CM000670.2:g.143728614G>A GRCh38
NC_000008.10:g.144810784G>A , CM000670.1:g.144810784G>A GRCh37
NC_000008.9:g.144882772G>A NCBI36
NG_016652.1:g.10131C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.847C>T MANE Select ENSP00000373565.3:p.Pro283Ser
ENST00000650760.1:c.1450C>T ENSP00000499217.1:p.Pro484Ser
ENST00000388913.3:c.847C>T ENSP00000373565.3:p.Pro283Ser
ENST00000395103.2:c.27C>T
NM_198488.3:c.847C>T NP_940890.3:p.Pro283Ser
XM_005250887.2:c.904C>T XP_005250944.1:p.Pro302Ser
XM_005250888.2:c.865C>T XP_005250945.1:p.Pro289Ser
XM_005250889.2:c.847C>T XP_005250946.1:p.Pro283Ser
XM_011516980.1:c.1168C>T XP_011515282.1:p.Pro390Ser
XM_011516981.1:c.1015C>T XP_011515283.1:p.Pro339Ser
XM_005250887.3:c.904C>T XP_005250944.1:p.Pro302Ser
XM_005250888.3:c.865C>T XP_005250945.1:p.Pro289Ser
XM_005250889.3:c.847C>T XP_005250946.1:p.Pro283Ser
XM_011516980.2:c.1450C>T XP_011515282.2:p.Pro484Ser
XM_011516981.2:c.1015C>T XP_011515283.1:p.Pro339Ser
XM_024447131.1:c.847C>T XP_024302899.1:p.Pro283Ser
NM_198488.4:c.847C>T NP_940890.3:p.Pro283Ser
NM_198488.5:c.847C>T MANE Select NP_940890.4:p.Pro283Ser