Canonical Allele Identifier: CA920412762

Gene: SMC1A

Linked Data

• dbSNP Id: rs1602398555

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382517_53382518insC , CM000685.2:g.53382517_53382518insC	GRCh38
NC_000023.10:g.53409438_53409439insC , CM000685.1:g.53409438_53409439insC	GRCh37
NC_000023.9:g.53426163_53426164insC	NCBI36
NG_006988.2:g.45153_45154insG , LRG_773:g.45153_45154insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3273_3274insG MANE Select	ENSP00000323421.3:p.Ser1092GlufsTer10
ENST00000674590.1:c.2505_2506insG	ENSP00000502626.1:p.Ser836GlufsTer10
ENST00000675504.1:c.3207_3208insG	ENSP00000502524.1:p.Ser1070GlufsTer10
ENST00000322213.8:c.3273_3274insG	ENSP00000323421.3:p.Ser1092GlufsTer10
ENST00000375340.10:c.3207_3208insG	ENSP00000364489.7:p.Ser1070GlufsTer10
ENST00000469129.1:n.129_130insG
ENST00000470241.2:c.563_564insG
NM_001281463.1:c.3207_3208insG , LRG_773t1:c.3207_3208insG	NP_001268392.1:p.Ser1070GlufsTer10
NM_006306.3:c.3273_3274insG , LRG_773t2:c.3273_3274insG	NP_006297.2:p.Ser1092GlufsTer10
NM_006306.4:c.3273_3274insG MANE Select	NP_006297.2:p.Ser1092GlufsTer10