Canonical Allele Identifier: CA372469253
Gene: FAM83H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728579C>G , CM000670.2:g.143728579C>G GRCh38
NC_000008.10:g.144810749C>G , CM000670.1:g.144810749C>G GRCh37
NC_000008.9:g.144882737C>G NCBI36
NG_016652.1:g.10166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.882G>C MANE Select ENSP00000373565.3:p.Met294Ile
ENST00000650760.1:c.1485G>C ENSP00000499217.1:p.Met495Ile
ENST00000388913.3:c.882G>C ENSP00000373565.3:p.Met294Ile
ENST00000395103.2:c.62G>C
NM_198488.3:c.882G>C NP_940890.3:p.Met294Ile
XM_005250887.2:c.939G>C XP_005250944.1:p.Met313Ile
XM_005250888.2:c.900G>C XP_005250945.1:p.Met300Ile
XM_005250889.2:c.882G>C XP_005250946.1:p.Met294Ile
XM_011516980.1:c.1203G>C XP_011515282.1:p.Met401Ile
XM_011516981.1:c.1050G>C XP_011515283.1:p.Met350Ile
XM_005250887.3:c.939G>C XP_005250944.1:p.Met313Ile
XM_005250888.3:c.900G>C XP_005250945.1:p.Met300Ile
XM_005250889.3:c.882G>C XP_005250946.1:p.Met294Ile
XM_011516980.2:c.1485G>C XP_011515282.2:p.Met495Ile
XM_011516981.2:c.1050G>C XP_011515283.1:p.Met350Ile
XM_024447131.1:c.882G>C XP_024302899.1:p.Met294Ile
NM_198488.4:c.882G>C NP_940890.3:p.Met294Ile
NM_198488.5:c.882G>C MANE Select NP_940890.4:p.Met294Ile