Canonical Allele Identifier: CA8104059

Gene: ELMO3

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67199363A>C , CM000678.2:g.67199363A>C	GRCh38
NC_000016.9:g.67233266A>C , CM000678.1:g.67233266A>C	GRCh37
NC_000016.8:g.65790767A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024712.5:c.37A>C MANE Select	NP_078988.3:p.Lys13Gln
ENST00000393997.8:c.37A>C MANE Select	ENSP00000377566.3:p.Lys13Gln
NM_024712.3:c.196A>C	NP_078988.2:p.Lys66Gln
NM_024712.4:c.37A>C	NP_078988.3:p.Lys13Gln
ENST00000360833.5:c.196A>C	ENSP00000354077.1:p.Lys66Gln
ENST00000360833.6:c.37A>C	ENSP00000354077.2:p.Lys13Gln
ENST00000393997.6:c.196A>C	ENSP00000377566.2:p.Lys66Gln
ENST00000571587.5:c.196A>C	ENSP00000461166.1:p.Lys66Gln
ENST00000571587.6:c.37A>C	ENSP00000461166.2:p.Lys13Gln
ENST00000652269.1:c.196A>C	ENSP00000498602.1:p.Lys66Gln
XR_933432.1:n.253A>C