Canonical Allele Identifier: CA413259076

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53440183T>G (hg19) ; chrX:g.53413233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53413233T>G , CM000685.2:g.53413233T>G	GRCh38
NC_000023.10:g.53440183T>G , CM000685.1:g.53440183T>G	GRCh37
NC_000023.9:g.53456908T>G	NCBI36
NG_006988.2:g.14438A>C , LRG_773:g.14438A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.614A>C MANE Select	ENSP00000323421.3:p.Glu205Ala
ENST00000674590.1:c.346-1332A>C	ENSP00000502626.1:n.346-1332A>C
ENST00000675065.1:n.466-1332A>C
ENST00000675504.1:c.548A>C	ENSP00000502524.1:p.Glu183Ala
ENST00000322213.8:c.614A>C	ENSP00000323421.3:p.Glu205Ala
ENST00000375340.10:c.548A>C	ENSP00000364489.7:p.Glu183Ala
ENST00000428014.1:c.548A>C	ENSP00000413509.2:p.Glu183Ala
ENST00000463684.1:c.*147A>C	ENSP00000476958.1:n.*147A>C
NM_001281463.1:c.548A>C , LRG_773t1:c.548A>C	NP_001268392.1:p.Glu183Ala
NM_006306.3:c.614A>C , LRG_773t2:c.614A>C	NP_006297.2:p.Glu205Ala
NM_006306.4:c.614A>C MANE Select	NP_006297.2:p.Glu205Ala