Canonical Allele Identifier: CA2429816134

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378018T= , CM000685.2:g.53378018T=	GRCh38
NC_000023.10:g.53404939T= , CM000685.1:g.53404939T=	GRCh37
NC_000023.9:g.53421664T=	NCBI36
NG_006988.2:g.49653A= , LRG_773:g.49653A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2085A= MANE Select	ENSP00000323421.3:n.*2085A=
ENST00000675504.1:c.*2085A=	ENSP00000502524.1:n.*2085A=
ENST00000322213.8:c.*2085A=	ENSP00000323421.3:n.*2085A=
ENST00000375340.10:c.*2085A=	ENSP00000364489.7:n.*2085A=
NM_001281463.1:c.*2085A= , LRG_773t1:c.*2085A=	NP_001268392.1:n.*2085A=
NM_006306.3:c.*2085A= , LRG_773t2:c.*2085A=	NP_006297.2:n.*2085A=
NM_006306.4:c.*2085A= MANE Select	NP_006297.2:n.*2085A=