Canonical Allele Identifier: CA148480

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53403898A>G , CM000685.2:g.53403898A>G	GRCh38
NC_000023.10:g.53430830A>G , CM000685.1:g.53430830A>G	GRCh37
NC_000023.9:g.53447555A>G	NCBI36
NG_006988.2:g.23773T>C , LRG_773:g.23773T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.2197-5T>C MANE Select	NP_006297.2:n.2197-5T>C
ENST00000322213.9:c.2197-5T>C MANE Select	ENSP00000323421.3:n.2197-5T>C
NM_001281463.1:c.2131-5T>C , LRG_773t1:c.2131-5T>C	NP_001268392.1:n.2131-5T>C
NM_006306.3:c.2197-5T>C , LRG_773t2:c.2197-5T>C	NP_006297.2:n.2197-5T>C
ENST00000322213.8:c.2197-5T>C	ENSP00000323421.3:n.2197-5T>C
ENST00000375340.10:c.2131-5T>C	ENSP00000364489.7:n.2131-5T>C
ENST00000674590.1:c.1429-5T>C	ENSP00000502626.1:n.1429-5T>C
ENST00000675504.1:c.2131-5T>C	ENSP00000502524.1:n.2131-5T>C