Canonical Allele Identifier: CA2429817352

Gene: SMC1A

Linked Data

• dbSNP Id: rs2075585425
• gnomAD v4: X-53382081-C-CAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382083_53382086dup , CM000685.2:g.53382083_53382086dup	GRCh38
NC_000023.10:g.53409004_53409007dup , CM000685.1:g.53409004_53409007dup	GRCh37
NC_000023.9:g.53425729_53425732dup	NCBI36
NG_006988.2:g.45586_45589dup , LRG_773:g.45586_45589dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3437+147_3437+150dup MANE Select	ENSP00000323421.3:n.3437+147_3437+150dup
ENST00000674590.1:c.2669+147_2669+150dup	ENSP00000502626.1:n.2669+147_2669+150dup
ENST00000675504.1:c.3371+147_3371+150dup	ENSP00000502524.1:n.3371+147_3371+150dup
ENST00000322213.8:c.3437+147_3437+150dup	ENSP00000323421.3:n.3437+147_3437+150dup
ENST00000375340.10:c.3371+147_3371+150dup	ENSP00000364489.7:n.3371+147_3371+150dup
ENST00000469129.1:n.440_443dup
ENST00000470241.2:c.727+147_727+150dup
NM_001281463.1:c.3371+147_3371+150dup , LRG_773t1:c.3371+147_3371+150dup	NP_001268392.1:n.3371+147_3371+150dup
NM_006306.3:c.3437+147_3437+150dup , LRG_773t2:c.3437+147_3437+150dup	NP_006297.2:n.3437+147_3437+150dup
NM_006306.4:c.3437+147_3437+150dup MANE Select	NP_006297.2:n.3437+147_3437+150dup