Canonical Allele Identifier: CA372469398

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810801A>G (hg19) ; chr8:g.143728631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728631A>G , CM000670.2:g.143728631A>G	GRCh38
NC_000008.10:g.144810801A>G , CM000670.1:g.144810801A>G	GRCh37
NC_000008.9:g.144882789A>G	NCBI36
NG_016652.1:g.10114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.830T>C MANE Select	ENSP00000373565.3:p.Leu277Pro
ENST00000650760.1:c.1433T>C	ENSP00000499217.1:p.Leu478Pro
ENST00000388913.3:c.830T>C	ENSP00000373565.3:p.Leu277Pro
ENST00000395103.2:c.10T>C
NM_198488.3:c.830T>C	NP_940890.3:p.Leu277Pro
XM_005250887.2:c.887T>C	XP_005250944.1:p.Leu296Pro
XM_005250888.2:c.848T>C	XP_005250945.1:p.Leu283Pro
XM_005250889.2:c.830T>C	XP_005250946.1:p.Leu277Pro
XM_011516980.1:c.1151T>C	XP_011515282.1:p.Leu384Pro
XM_011516981.1:c.998T>C	XP_011515283.1:p.Leu333Pro
XM_005250887.3:c.887T>C	XP_005250944.1:p.Leu296Pro
XM_005250888.3:c.848T>C	XP_005250945.1:p.Leu283Pro
XM_005250889.3:c.830T>C	XP_005250946.1:p.Leu277Pro
XM_011516980.2:c.1433T>C	XP_011515282.2:p.Leu478Pro
XM_011516981.2:c.998T>C	XP_011515283.1:p.Leu333Pro
XM_024447131.1:c.830T>C	XP_024302899.1:p.Leu277Pro
NM_198488.4:c.830T>C	NP_940890.3:p.Leu277Pro
NM_198488.5:c.830T>C MANE Select	NP_940890.4:p.Leu277Pro