Canonical Allele Identifier: CA2429825234

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405250G= , CM000685.2:g.53405250G=	GRCh38
NC_000023.10:g.53432182G= , CM000685.1:g.53432182G=	GRCh37
NC_000023.9:g.53448907G=	NCBI36
NG_006988.2:g.22421C= , LRG_773:g.22421C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2053C= MANE Select	ENSP00000323421.3:p.Leu685=
ENST00000674590.1:c.1285C=	ENSP00000502626.1:p.Leu429=
ENST00000675065.1:n.1405C=
ENST00000675504.1:c.1987C=	ENSP00000502524.1:p.Leu663=
ENST00000322213.8:c.2053C=	ENSP00000323421.3:p.Leu685=
ENST00000375340.10:c.1987C=	ENSP00000364489.7:p.Leu663=
NM_001281463.1:c.1987C= , LRG_773t1:c.1987C=	NP_001268392.1:p.Leu663=
NM_006306.3:c.2053C= , LRG_773t2:c.2053C=	NP_006297.2:p.Leu685=
NM_006306.4:c.2053C= MANE Select	NP_006297.2:p.Leu685=