Canonical Allele Identifier: CA43356299

Gene: GEN1 SMC6

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17778199T>C , CM000664.2:g.17778199T>C	GRCh38
NC_000002.11:g.17959466T>C , CM000664.1:g.17959466T>C	GRCh37
NC_000002.10:g.17822947T>C	NCBI36
NG_051292.1:g.29513T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001130009.3:c.1264+136T>C (GEN1) MANE Select	NP_001123481.3:n.1264+136T>C
ENST00000381254.7:c.1264+136T>C (GEN1) MANE Select	ENSP00000370653.2:n.1264+136T>C
NM_001130009.1:c.1264+136T>C (GEN1)	NP_001123481.1:n.1264+136T>C
NM_001130009.2:c.1264+136T>C (GEN1)	NP_001123481.2:n.1264+136T>C
NM_182625.3:c.1264+136T>C (GEN1)	NP_872431.3:n.1264+136T>C
NM_182625.4:c.1264+136T>C (GEN1)	NP_872431.4:n.1264+136T>C
NM_182625.5:c.1264+136T>C (GEN1)	NP_872431.5:n.1264+136T>C
ENST00000317402.11:c.1264+136T>C (GEN1)	ENSP00000318977.7:n.1264+136T>C
ENST00000381254.6:c.1264+136T>C (GEN1)	ENSP00000370653.2:n.1264+136T>C
ENST00000402989.5:c.-6+9616A>G (SMC6)	ENSP00000384539.1:n.-6+9616A>G
ENST00000428868.1:c.-6+9616A>G (SMC6)	ENSP00000415352.1:n.-6+9616A>G
ENST00000528873.2:n.577+136T>C (GEN1)
XM_005262613.3:c.1264+136T>C (GEN1)	XP_005262670.1:n.1264+136T>C
XM_005262613.4:c.1264+136T>C (GEN1)	XP_005262670.1:n.1264+136T>C
XM_006712005.2:c.1264+136T>C (GEN1)	XP_006712068.1:n.1264+136T>C
XM_006712005.3:c.1264+136T>C (GEN1)	XP_006712068.1:n.1264+136T>C
XM_011532820.1:c.1264+136T>C (GEN1)	XP_011531122.1:n.1264+136T>C
XM_011532820.2:c.1264+136T>C (GEN1)	XP_011531122.1:n.1264+136T>C
XM_011532821.1:c.1264+136T>C (GEN1)	XP_011531123.1:n.1264+136T>C
XM_011532821.2:c.1264+136T>C (GEN1)	XP_011531123.1:n.1264+136T>C
XM_011532822.1:c.1264+136T>C (GEN1)	XP_011531124.1:n.1264+136T>C
XM_011532822.2:c.1264+136T>C (GEN1)	XP_011531124.1:n.1264+136T>C
XR_939762.1:n.1409-13552A>G
XR_939762.2:n.1418-13552A>G