Canonical Allele Identifier: CA8949996

Gene: EPG5

Linked Data

• ClinVar Variation Id: 466241
• ClinVar RCV Id: RCV000548885 ; RCV001706669 ; RCV003935457
• dbSNP Id: rs201067154
• ExAC: 18:43535154 C / T
• gnomAD v2: 18-43535154-C-T
• gnomAD v3: 18-45955188-C-T
• gnomAD v4: 18-45955188-C-T
• MyVariant Identifiers: chr18:g.43535154C>T (hg19) ; chr18:g.45955188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.45955188C>T , CM000680.2:g.45955188C>T	GRCh38
NC_000018.9:g.43535154C>T , CM000680.1:g.43535154C>T	GRCh37
NC_000018.8:g.41789152C>T	NCBI36
NG_042838.1:g.17152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000587884.2:c.214G>A	ENSP00000466990.2:p.Ala72Thr
ENST00000590884.6:c.214G>A	ENSP00000466403.2:p.Ala72Thr
ENST00000592272.6:c.214G>A	ENSP00000467464.2:p.Ala72Thr
ENST00000696482.1:c.214G>A	ENSP00000512656.1:p.Ala72Thr
ENST00000696483.1:c.214G>A	ENSP00000512657.1:p.Ala72Thr
ENST00000696484.1:c.214G>A	ENSP00000512658.1:p.Ala72Thr
ENST00000696485.1:c.214G>A	ENSP00000512659.1:p.Ala72Thr
ENST00000696489.1:c.214G>A	ENSP00000512660.1:p.Ala72Thr
ENST00000696490.1:c.214G>A	ENSP00000512661.1:p.Ala72Thr
ENST00000282041.11:c.214G>A MANE Select	ENSP00000282041.4:p.Ala72Thr
ENST00000282041.9:c.214G>A	ENSP00000282041.4:p.Ala72Thr
ENST00000587974.1:n.249G>A
NM_020964.2:c.214G>A	NP_066015.2:p.Ala72Thr
XM_011526120.1:c.214G>A	XP_011524422.1:p.Ala72Thr
XM_011526121.1:c.214G>A	XP_011524423.1:p.Ala72Thr
XM_011526122.1:c.214G>A	XP_011524424.1:p.Ala72Thr
XM_011526123.1:c.214G>A	XP_011524425.1:p.Ala72Thr
XM_011526124.1:c.214G>A	XP_011524426.1:p.Ala72Thr
XM_011526125.1:c.214G>A	XP_011524427.1:p.Ala72Thr
XM_011526127.1:c.214G>A	XP_011524429.1:p.Ala72Thr
XM_011526128.1:c.214G>A	XP_011524430.1:p.Ala72Thr
XR_935244.1:n.314G>A
NM_020964.3:c.214G>A MANE Select	NP_066015.2:p.Ala72Thr
XM_017025889.1:c.214G>A	XP_016881378.1:p.Ala72Thr
XM_017025890.2:c.214G>A	XP_016881379.1:p.Ala72Thr
XM_017025891.1:c.214G>A	XP_016881380.1:p.Ala72Thr
XR_001753256.1:n.296G>A
XR_001753257.1:n.296G>A