Canonical Allele Identifier: CA3241713

Gene: EGFLAM

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38406903C>A , CM000667.2:g.38406903C>A	GRCh38
NC_000005.9:g.38407005C>A , CM000667.1:g.38407005C>A	GRCh37
NC_000005.8:g.38442762C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_152403.4:c.904C>A MANE Select	NP_689616.2:p.Pro302Thr
ENST00000322350.10:c.904C>A MANE Select	ENSP00000313084.5:p.Pro302Thr
NM_001205301.1:c.904C>A	NP_001192230.1:p.Pro302Thr
NM_001205301.2:c.904C>A	NP_001192230.1:p.Pro302Thr
NM_152403.3:c.904C>A	NP_689616.2:p.Pro302Thr
NM_182798.2:c.202C>A	NP_877950.1:p.Pro68Thr
NM_182798.3:c.202C>A	NP_877950.1:p.Pro68Thr
ENST00000322350.9:c.904C>A	ENSP00000313084.5:p.Pro302Thr
ENST00000336740.10:c.202C>A	ENSP00000337607.6:p.Pro68Thr
ENST00000354891.7:c.904C>A	ENSP00000346964.3:p.Pro302Thr
ENST00000397202.6:c.-364+3012C>A	ENSP00000380385.2:n.-364+3012C>A