Canonical Allele Identifier: CA2429816943

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380626A= , CM000685.2:g.53380626A=	GRCh38
NC_000023.10:g.53407547A= , CM000685.1:g.53407547A=	GRCh37
NC_000023.9:g.53424272A=	NCBI36
NG_006988.2:g.47045T= , LRG_773:g.47045T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3612T= MANE Select	ENSP00000323421.3:p.Tyr1204=
ENST00000674590.1:c.2844T=	ENSP00000502626.1:p.Tyr948=
ENST00000675504.1:c.3546T=	ENSP00000502524.1:p.Tyr1182=
ENST00000322213.8:c.3612T=	ENSP00000323421.3:p.Tyr1204=
ENST00000375340.10:c.3546T=	ENSP00000364489.7:p.Tyr1182=
ENST00000470241.2:c.832T=
NM_001281463.1:c.3546T= , LRG_773t1:c.3546T=	NP_001268392.1:p.Tyr1182=
NM_006306.3:c.3612T= , LRG_773t2:c.3612T=	NP_006297.2:p.Tyr1204=
NM_006306.4:c.3612T= MANE Select	NP_006297.2:p.Tyr1204=