Canonical Allele Identifier: CA400190089

Gene: EME1 LRRC59

Linked Data

• MyVariant Identifiers: chr17:g.48452584G>C (hg19) ; chr17:g.50375223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50375223G>C , CM000679.2:g.50375223G>C	GRCh38
NC_000017.10:g.48452584G>C , CM000679.1:g.48452584G>C	GRCh37
NC_000017.9:g.45807583G>C	NCBI36
NG_029665.1:g.7004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338165.9:c.15G>C (EME1) MANE Select	ENSP00000339897.4:p.Lys5Asn
ENST00000338165.8:c.15G>C (EME1)	ENSP00000339897.4:p.Lys5Asn
ENST00000393271.6:c.15G>C (EME1)	ENSP00000376952.2:p.Lys5Asn
ENST00000503118.2:c.274C>G (LRRC59)
ENST00000510007.5:n.63G>C (EME1)
ENST00000511519.6:c.15G>C (EME1)	ENSP00000423029.2:p.Lys5Asn
ENST00000511648.6:c.15G>C (EME1)	ENSP00000421700.2:p.Lys5Asn
ENST00000511711.5:c.15G>C (EME1)	ENSP00000427392.1:p.Lys5Asn
NM_001166131.1:c.15G>C (EME1)	NP_001159603.1:p.Lys5Asn
NM_152463.2:c.15G>C (EME1)	NP_689676.2:p.Lys5Asn
XM_005257081.2:c.15G>C (EME1)	XP_005257138.1:p.Lys5Asn
XM_011524392.1:c.15G>C (EME1)	XP_011522694.1:p.Lys5Asn
XM_011524393.1:c.15G>C (EME1)	XP_011522695.1:p.Lys5Asn
XM_011524394.1:c.15G>C (EME1)	XP_011522696.1:p.Lys5Asn
XM_011524395.1:c.-479G>C (EME1)	XP_011522697.1:n.-479G>C
XM_011524396.1:c.15G>C (EME1)	XP_011522698.1:p.Lys5Asn
XR_934390.1:n.431G>C (EME1)
XR_934392.1:n.431G>C (EME1)
XR_934393.1:n.431G>C (EME1)
XM_005257081.3:c.15G>C (EME1)	XP_005257138.1:p.Lys5Asn
XM_011524395.2:c.-479G>C (EME1)	XP_011522697.1:n.-479G>C
XM_017024236.2:c.15G>C (EME1)	XP_016879725.1:p.Lys5Asn
XR_002957972.1:n.92G>C (EME1)
XR_934390.3:n.88G>C (EME1)
NM_152463.3:c.15G>C (EME1)	NP_689676.2:p.Lys5Asn
NM_001166131.2:c.15G>C (EME1)	NP_001159603.1:p.Lys5Asn
NM_152463.4:c.15G>C (EME1) MANE Select	NP_689676.2:p.Lys5Asn