Canonical Allele Identifier: CA413257731

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53439106A>C (hg19) ; chrX:g.53412156A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412156A>C , CM000685.2:g.53412156A>C	GRCh38
NC_000023.10:g.53439106A>C , CM000685.1:g.53439106A>C	GRCh37
NC_000023.9:g.53455831A>C	NCBI36
NG_006988.2:g.15515T>G , LRG_773:g.15515T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.952T>G MANE Select	ENSP00000323421.3:p.Ser318Ala
ENST00000674590.1:c.346-255T>G	ENSP00000502626.1:n.346-255T>G
ENST00000675065.1:n.466-255T>G
ENST00000675504.1:c.886T>G	ENSP00000502524.1:p.Ser296Ala
ENST00000322213.8:c.952T>G	ENSP00000323421.3:p.Ser318Ala
ENST00000375340.10:c.886T>G	ENSP00000364489.7:p.Ser296Ala
ENST00000463684.1:c.*485T>G	ENSP00000476958.1:n.*485T>G
NM_001281463.1:c.886T>G , LRG_773t1:c.886T>G	NP_001268392.1:p.Ser296Ala
NM_006306.3:c.952T>G , LRG_773t2:c.952T>G	NP_006297.2:p.Ser318Ala
NM_006306.4:c.952T>G MANE Select	NP_006297.2:p.Ser318Ala