Canonical Allele Identifier: CA372464770

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143727917G>C , CM000670.2:g.143727917G>C	GRCh38
NC_000008.10:g.144810087G>C , CM000670.1:g.144810087G>C	GRCh37
NC_000008.9:g.144882075G>C	NCBI36
NG_016652.1:g.10828C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_198488.5:c.1544C>G MANE Select	NP_940890.4:p.Ala515Gly
ENST00000388913.4:c.1544C>G MANE Select	ENSP00000373565.3:p.Ala515Gly
NM_198488.3:c.1544C>G	NP_940890.3:p.Ala515Gly
NM_198488.4:c.1544C>G	NP_940890.3:p.Ala515Gly
ENST00000388913.3:c.1544C>G	ENSP00000373565.3:p.Ala515Gly
ENST00000395103.2:c.724C>G
ENST00000650760.1:c.2147C>G	ENSP00000499217.1:p.Ala716Gly
XM_005250887.2:c.1601C>G	XP_005250944.1:p.Ala534Gly
XM_005250887.3:c.1601C>G	XP_005250944.1:p.Ala534Gly
XM_005250888.2:c.1562C>G	XP_005250945.1:p.Ala521Gly
XM_005250888.3:c.1562C>G	XP_005250945.1:p.Ala521Gly
XM_005250889.2:c.1544C>G	XP_005250946.1:p.Ala515Gly
XM_005250889.3:c.1544C>G	XP_005250946.1:p.Ala515Gly
XM_011516980.1:c.1865C>G	XP_011515282.1:p.Ala622Gly
XM_011516980.2:c.2147C>G	XP_011515282.2:p.Ala716Gly
XM_011516981.1:c.1712C>G	XP_011515283.1:p.Ala571Gly
XM_011516981.2:c.1712C>G	XP_011515283.1:p.Ala571Gly
XM_024447131.1:c.1544C>G	XP_024302899.1:p.Ala515Gly