Canonical Allele Identifier: CA413257340

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53439021G>A (hg19) ; chrX:g.53412071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412071G>A , CM000685.2:g.53412071G>A	GRCh38
NC_000023.10:g.53439021G>A , CM000685.1:g.53439021G>A	GRCh37
NC_000023.9:g.53455746G>A	NCBI36
NG_006988.2:g.15600C>T , LRG_773:g.15600C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.1037C>T MANE Select	ENSP00000323421.3:p.Ala346Val
ENST00000674590.1:c.346-170C>T	ENSP00000502626.1:n.346-170C>T
ENST00000675065.1:n.466-170C>T
ENST00000675504.1:c.971C>T	ENSP00000502524.1:p.Ala324Val
ENST00000322213.8:c.1037C>T	ENSP00000323421.3:p.Ala346Val
ENST00000375340.10:c.971C>T	ENSP00000364489.7:p.Ala324Val
ENST00000463684.1:c.*570C>T	ENSP00000476958.1:n.*570C>T
NM_001281463.1:c.971C>T , LRG_773t1:c.971C>T	NP_001268392.1:p.Ala324Val
NM_006306.3:c.1037C>T , LRG_773t2:c.1037C>T	NP_006297.2:p.Ala346Val
NM_006306.4:c.1037C>T MANE Select	NP_006297.2:p.Ala346Val