Canonical Allele Identifier: CA338760532
Community Standard Title: NM_015047.3(EMC1):c.1747C>T (p.His583Tyr)
Gene: EMC1 HGNC NCBI
EMC1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.19232659G>A , CM000663.2:g.19232659G>A GRCh38
NC_000001.10:g.19559153G>A , CM000663.1:g.19559153G>A GRCh37
NC_000001.9:g.19431740G>A NCBI36
NG_032948.1:g.23901C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015047.3:c.1747C>T (EMC1) MANE Select NP_055862.1:p.His583Tyr
ENST00000477853.6:c.1747C>T (EMC1) MANE Select ENSP00000420608.1:p.His583Tyr
NM_001271427.1:c.1744C>T (EMC1) NP_001258356.1:p.His582Tyr
NM_001271427.2:c.1744C>T (EMC1) NP_001258356.1:p.His582Tyr
NM_001271428.1:c.1744C>T (EMC1) NP_001258357.1:p.His582Tyr
NM_001271428.2:c.1744C>T (EMC1) NP_001258357.1:p.His582Tyr
NM_001271429.1:c.1681C>T (EMC1) NP_001258358.1:p.His561Tyr
NM_001271429.2:c.1681C>T (EMC1) NP_001258358.1:p.His561Tyr
NM_001375820.1:c.1756C>T (EMC1) NP_001362749.1:p.His586Tyr
NM_001375821.1:c.1753C>T (EMC1) NP_001362750.1:p.His585Tyr
NM_015047.2:c.1747C>T (EMC1) NP_055862.1:p.His583Tyr
NR_135114.1:n.175-7598G>A (EMC1-AS1)
ENST00000375199.7:c.1744C>T (EMC1) ENSP00000364345.3:p.His582Tyr
ENST00000375208.7:c.1681C>T (EMC1) ENSP00000364354.3:p.His561Tyr
ENST00000477853.5:c.1747C>T (EMC1) ENSP00000420608.1:p.His583Tyr
ENST00000486405.2:c.1756C>T (EMC1) ENSP00000419345.2:p.His586Tyr
ENST00000685099.1:c.*2026C>T (EMC1) ENSP00000509737.1:n.*2026C>T
ENST00000685594.1:c.*373C>T (EMC1) ENSP00000510232.1:n.*373C>T
ENST00000688219.1:c.1624C>T (EMC1) ENSP00000510231.1:p.His542Tyr
ENST00000688332.1:c.1575C>T (EMC1)
ENST00000688667.1:c.1747C>T (EMC1) ENSP00000509418.1:p.His583Tyr
ENST00000690451.1:n.3195C>T (EMC1)
ENST00000690732.1:c.1747C>T (EMC1) ENSP00000510581.1:p.His583Tyr
ENST00000690823.1:c.1741C>T (EMC1) ENSP00000509286.1:p.His581Tyr
ENST00000692207.1:c.*1511C>T (EMC1) ENSP00000509071.1:n.*1511C>T
XM_005245787.1:c.1756C>T (EMC1) XP_005245844.1:p.His586Tyr
XM_005245787.2:c.1756C>T (EMC1) XP_005245844.1:p.His586Tyr
XM_005245788.1:c.1753C>T (EMC1) XP_005245845.1:p.His585Tyr
XM_005245788.2:c.1753C>T (EMC1) XP_005245845.1:p.His585Tyr
XR_241220.2:n.196-7598G>A (EMC1-AS1)