Canonical Allele Identifier: CA6342517

Gene: ESAM

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124754349G>T , CM000673.2:g.124754349G>T	GRCh38
NC_000011.9:g.124624245G>T , CM000673.1:g.124624245G>T	GRCh37
NC_000011.8:g.124129455G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_138961.3:c.731-9C>A MANE Select	NP_620411.2:n.731-9C>A
ENST00000278927.10:c.731-9C>A MANE Select	ENSP00000278927.5:n.731-9C>A
NM_138961.2:c.731-9C>A	NP_620411.2:n.731-9C>A
ENST00000278927.9:c.731-9C>A	ENSP00000278927.5:n.731-9C>A
ENST00000417453.5:c.*4-9C>A	ENSP00000389235.1:n.*4-9C>A
ENST00000435477.1:c.350-9C>A	ENSP00000415893.1:n.350-9C>A
ENST00000444566.5:c.194-9C>A	ENSP00000406689.1:n.194-9C>A
ENST00000464067.1:n.1447-9C>A
ENST00000485116.5:n.1277-9C>A
XM_005271720.3:c.194-9C>A	XP_005271777.1:n.194-9C>A
XM_011543060.1:c.422-9C>A	XP_011541362.1:n.422-9C>A
XR_246456.2:n.890-9C>A