Canonical Allele Identifier: CA9047653

Gene: REEP6

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1496672G>A , CM000681.2:g.1496672G>A	GRCh38
NC_000019.9:g.1496671G>A , CM000681.1:g.1496671G>A	GRCh37
NC_000019.8:g.1447671G>A	NCBI36
NG_055254.1:g.10668G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138393.4:c.517+219G>A MANE Select	NP_612402.1:n.517+219G>A
ENST00000233596.8:c.517+219G>A MANE Select	ENSP00000233596.2:n.517+219G>A
NM_001329556.3:c.598+1G>A MANE Plus Clinical	NP_001316485.1:n.598+1G>A
ENST00000395479.10:c.598+1G>A MANE Plus Clinical	ENSP00000378861.5:n.598+1G>A
NM_001329556.2:c.598+1G>A	NP_001316485.1:n.598+1G>A
NM_138393.1:c.517+219G>A	NP_612402.1:n.517+219G>A
NM_138393.3:c.517+219G>A	NP_612402.1:n.517+219G>A
ENST00000233596.7:c.517+219G>A	ENSP00000233596.2:n.517+219G>A
ENST00000395479.8:c.414+1G>A
ENST00000395484.4:c.382+1G>A	ENSP00000378865.4:n.382+1G>A