Canonical Allele Identifier: CA8647270
Gene: EME1 HGNC NCBI
LRRC59 HGNC NCBI

Linked Data

dbSNP Id: rs12450550
ExAC: 17:48456193 T / C
gnomAD v2: 17-48456193-T-C
gnomAD v3: 17-50378832-T-C
gnomAD v4: 17-50378832-T-C
MyVariant Identifiers: chr17:g.48456193T>C (hg19) chr17:g.50378832T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50378832T>C , CM000679.2:g.50378832T>C GRCh38
NC_000017.10:g.48456193T>C , CM000679.1:g.48456193T>C GRCh37
NC_000017.9:g.45811192T>C NCBI36
NG_029665.1:g.10613T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000338165.9:c.1049T>C (EME1) MANE Select ENSP00000339897.4:p.Ile350Thr
ENST00000338165.8:c.1049T>C (EME1) ENSP00000339897.4:p.Ile350Thr
ENST00000393271.6:c.1049T>C (EME1) ENSP00000376952.2:p.Ile350Thr
ENST00000503118.2:c.18-2949A>G (LRRC59)
ENST00000510007.5:n.621T>C (EME1)
ENST00000510246.1:c.483T>C (EME1)
ENST00000511648.6:c.1049T>C (EME1) ENSP00000421700.2:p.Ile350Thr
ENST00000513077.1:n.231T>C (EME1)
NM_001166131.1:c.1049T>C (EME1) NP_001159603.1:p.Ile350Thr
NM_152463.2:c.1049T>C (EME1) NP_689676.2:p.Ile350Thr
XM_005257081.2:c.578T>C (EME1) XP_005257138.1:p.Ile193Thr
XM_011524392.1:c.962T>C (EME1) XP_011522694.1:p.Ile321Thr
XM_011524393.1:c.578T>C (EME1) XP_011522695.1:p.Ile193Thr
XM_011524394.1:c.*3T>C (EME1) XP_011522696.1:n.*3T>C
XM_011524395.1:c.80T>C (EME1) XP_011522697.1:p.Ile27Thr
XM_011524396.1:c.1049T>C (EME1) XP_011522698.1:p.Ile350Thr
XR_934390.1:n.1465T>C (EME1)
XR_934392.1:n.1465T>C (EME1)
XR_934393.1:n.1460T>C (EME1)
XM_005257081.3:c.578T>C (EME1) XP_005257138.1:p.Ile193Thr
XM_011524395.2:c.80T>C (EME1) XP_011522697.1:p.Ile27Thr
XM_017024236.2:c.962T>C (EME1) XP_016879725.1:p.Ile321Thr
XR_002957972.1:n.1126T>C (EME1)
XR_934390.3:n.1122T>C (EME1)
NM_152463.3:c.1049T>C (EME1) NP_689676.2:p.Ile350Thr
NM_001166131.2:c.1049T>C (EME1) NP_001159603.1:p.Ile350Thr
NM_152463.4:c.1049T>C (EME1) MANE Select NP_689676.2:p.Ile350Thr
Search 100 bp 5'
Search 100 bp 3'