Canonical Allele Identifier: CA463520017

Gene: FAM83H

Linked Data

• dbSNP Id: rs1818398289
• MyVariant Identifiers: chr8:g.144810736G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728566G>A , CM000670.2:g.143728566G>A	GRCh38
NC_000008.10:g.144810736G>A , CM000670.1:g.144810736G>A	GRCh37
NC_000008.9:g.144882724G>A	NCBI36
NG_016652.1:g.10179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.895C>T MANE Select	ENSP00000373565.3:p.Leu299=
ENST00000650760.1:c.1498C>T	ENSP00000499217.1:p.Leu500=
ENST00000388913.3:c.895C>T	ENSP00000373565.3:p.Leu299=
ENST00000395103.2:c.75C>T
NM_198488.3:c.895C>T	NP_940890.3:p.Leu299=
XM_005250887.2:c.952C>T	XP_005250944.1:p.Leu318=
XM_005250888.2:c.913C>T	XP_005250945.1:p.Leu305=
XM_005250889.2:c.895C>T	XP_005250946.1:p.Leu299=
XM_011516980.1:c.1216C>T	XP_011515282.1:p.Leu406=
XM_011516981.1:c.1063C>T	XP_011515283.1:p.Leu355=
XM_005250887.3:c.952C>T	XP_005250944.1:p.Leu318=
XM_005250888.3:c.913C>T	XP_005250945.1:p.Leu305=
XM_005250889.3:c.895C>T	XP_005250946.1:p.Leu299=
XM_011516980.2:c.1498C>T	XP_011515282.2:p.Leu500=
XM_011516981.2:c.1063C>T	XP_011515283.1:p.Leu355=
XM_024447131.1:c.895C>T	XP_024302899.1:p.Leu299=
NM_198488.4:c.895C>T	NP_940890.3:p.Leu299=
NM_198488.5:c.895C>T MANE Select	NP_940890.4:p.Leu299=