Canonical Allele Identifier: CA413241737

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53407539A>C (hg19) ; chrX:g.53380618A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380618A>C , CM000685.2:g.53380618A>C	GRCh38
NC_000023.10:g.53407539A>C , CM000685.1:g.53407539A>C	GRCh37
NC_000023.9:g.53424264A>C	NCBI36
NG_006988.2:g.47053T>G , LRG_773:g.47053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3618+2T>G MANE Select	ENSP00000323421.3:n.3618+2T>G
ENST00000674590.1:c.2850+2T>G	ENSP00000502626.1:n.2850+2T>G
ENST00000675504.1:c.3552+2T>G	ENSP00000502524.1:n.3552+2T>G
ENST00000322213.8:c.3618+2T>G	ENSP00000323421.3:n.3618+2T>G
ENST00000375340.10:c.3552+2T>G	ENSP00000364489.7:n.3552+2T>G
NM_001281463.1:c.3552+2T>G , LRG_773t1:c.3552+2T>G	NP_001268392.1:n.3552+2T>G
NM_006306.3:c.3618+2T>G , LRG_773t2:c.3618+2T>G	NP_006297.2:n.3618+2T>G
NM_006306.4:c.3618+2T>G MANE Select	NP_006297.2:n.3618+2T>G