Canonical Allele Identifier: CA43338599

Gene: GEN1 SMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17761698C>A , CM000664.2:g.17761698C>A	GRCh38
NC_000002.11:g.17942965C>A , CM000664.1:g.17942965C>A	GRCh37
NC_000002.10:g.17806446C>A	NCBI36
NG_051292.1:g.13012C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001130009.3:c.348+116C>A (GEN1) MANE Select	NP_001123481.3:n.348+116C>A
ENST00000381254.7:c.348+116C>A (GEN1) MANE Select	ENSP00000370653.2:n.348+116C>A
NM_001130009.1:c.348+116C>A (GEN1)	NP_001123481.1:n.348+116C>A
NM_001130009.2:c.348+116C>A (GEN1)	NP_001123481.2:n.348+116C>A
NM_182625.3:c.348+116C>A (GEN1)	NP_872431.3:n.348+116C>A
NM_182625.4:c.348+116C>A (GEN1)	NP_872431.4:n.348+116C>A
NM_182625.5:c.348+116C>A (GEN1)	NP_872431.5:n.348+116C>A
ENST00000317402.11:c.348+116C>A (GEN1)	ENSP00000318977.7:n.348+116C>A
ENST00000381254.6:c.348+116C>A (GEN1)	ENSP00000370653.2:n.348+116C>A
ENST00000402989.5:c.-5-15747G>T (SMC6)	ENSP00000384539.1:n.-5-15747G>T
ENST00000428868.1:c.-5-15747G>T (SMC6)	ENSP00000415352.1:n.-5-15747G>T
ENST00000524465.5:c.348+116C>A (GEN1)	ENSP00000435143.1:n.348+116C>A
ENST00000534669.1:n.187+116C>A (GEN1)
XM_005262613.3:c.348+116C>A (GEN1)	XP_005262670.1:n.348+116C>A
XM_005262613.4:c.348+116C>A (GEN1)	XP_005262670.1:n.348+116C>A
XM_006712005.2:c.348+116C>A (GEN1)	XP_006712068.1:n.348+116C>A
XM_006712005.3:c.348+116C>A (GEN1)	XP_006712068.1:n.348+116C>A
XM_011532820.1:c.348+116C>A (GEN1)	XP_011531122.1:n.348+116C>A
XM_011532820.2:c.348+116C>A (GEN1)	XP_011531122.1:n.348+116C>A
XM_011532821.1:c.348+116C>A (GEN1)	XP_011531123.1:n.348+116C>A
XM_011532821.2:c.348+116C>A (GEN1)	XP_011531123.1:n.348+116C>A
XM_011532822.1:c.348+116C>A (GEN1)	XP_011531124.1:n.348+116C>A
XM_011532822.2:c.348+116C>A (GEN1)	XP_011531124.1:n.348+116C>A