Canonical Allele Identifier: CA232188

Gene: FAM53C

Linked Data

• ClinVar Variation Id: 91932
• ClinVar RCV Id: RCV000122490
• dbSNP Id: rs386352301
• MyVariant Identifiers: chr5:g.137680867C>T (hg19) ; chr5:g.138345178C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138345178C>T , CM000667.2:g.138345178C>T	GRCh38
NC_000005.9:g.137680867C>T , CM000667.1:g.137680867C>T	GRCh37
NC_000005.8:g.137708766C>T	NCBI36
NG_053107.1:g.12668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000239906.10:c.490C>T MANE Select	ENSP00000239906.5:p.Pro164Ser
ENST00000239906.9:c.490C>T	ENSP00000239906.5:p.Pro164Ser
ENST00000434981.6:c.490C>T	ENSP00000403705.2:p.Pro164Ser
ENST00000505136.1:n.587C>T
ENST00000505768.1:n.705C>T
ENST00000507506.5:n.711C>T
ENST00000511276.1:c.460C>T	ENSP00000427610.1:p.Pro154Ser
ENST00000513056.5:c.137-218C>T	ENSP00000425154.1:n.137-218C>T
NM_001135647.1:c.490C>T	NP_001129119.1:p.Pro164Ser
NM_016605.2:c.490C>T	NP_057689.1:p.Pro164Ser
XM_011543451.1:c.508C>T	XP_011541753.1:p.Pro170Ser
NM_001350194.1:c.137-280C>T	NP_001337123.1:n.137-280C>T
NM_001350195.1:c.460C>T	NP_001337124.1:p.Pro154Ser
XM_024446108.1:c.508C>T	XP_024301876.1:p.Pro170Ser
NM_016605.3:c.490C>T MANE Select	NP_057689.1:p.Pro164Ser
NM_001135647.2:c.490C>T	NP_001129119.1:p.Pro164Ser
NM_001350194.2:c.137-280C>T	NP_001337123.1:n.137-280C>T
NM_001350195.2:c.460C>T	NP_001337124.1:p.Pro154Ser