Canonical Allele Identifier: CA8730011
Gene: FAM20A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.68554766A>G , CM000679.2:g.68554766A>G GRCh38
NC_000017.10:g.66550907A>G , CM000679.1:g.66550907A>G GRCh37
NC_000017.9:g.64062502A>G NCBI36
NG_029809.1:g.51189T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000592554.2:c.640+11T>C MANE Select ENSP00000468308.1:n.640+11T>C
ENST00000226094.9:n.297+11T>C
ENST00000590074.5:c.796+11T>C
ENST00000592554.1:c.640+11T>C ENSP00000468308.1:n.640+11T>C
ENST00000592847.1:n.282+11T>C
NM_001243746.1:c.226+11T>C NP_001230675.1:n.226+11T>C
NM_017565.3:c.640+11T>C NP_060035.2:n.640+11T>C
NR_027751.1:n.334+11T>C
XM_006721959.2:c.226+11T>C XP_006722022.1:n.226+11T>C
XM_006721960.2:c.640+11T>C XP_006722023.1:n.640+11T>C
XM_011524917.1:c.640+11T>C XP_011523219.1:n.640+11T>C
XM_011524918.1:c.640+11T>C XP_011523220.1:n.640+11T>C
XM_011524919.1:c.640+11T>C XP_011523221.1:n.640+11T>C
XM_011524920.1:c.640+11T>C XP_011523222.1:n.640+11T>C
XM_011524921.1:c.640+11T>C XP_011523223.1:n.640+11T>C
XR_429905.1:n.768+11T>C
XR_934486.1:n.768+11T>C
XR_934487.1:n.768+11T>C
XR_934488.1:n.768+11T>C
XR_934489.1:n.768+11T>C
XR_934490.1:n.768+11T>C
XM_006721959.3:c.226+11T>C XP_006722022.1:n.226+11T>C
XM_011524918.3:c.640+11T>C XP_011523220.1:n.640+11T>C
XM_017024781.2:c.640+11T>C XP_016880270.1:n.640+11T>C
XR_001752543.2:n.711+11T>C
XR_001752544.2:n.711+11T>C
XR_002958041.1:n.711+11T>C
XR_429905.2:n.711+11T>C
XR_934487.3:n.711+11T>C
NM_017565.4:c.640+11T>C MANE Select NP_060035.2:n.640+11T>C
NM_001243746.2:c.226+11T>C NP_001230675.1:n.226+11T>C
NR_027751.2:n.334+11T>C