Canonical Allele Identifier: CA10420488

Gene: SMC1A

Linked Data

• dbSNP Id: rs12851929
• ExAC: X:53432183 C / G
• gnomAD v2: X-53432183-C-G
• gnomAD v3: X-53405251-C-G
• gnomAD v4: X-53405251-C-G
• MyVariant Identifiers: chrX:g.53432183C>G (hg19) ; chrX:g.53405251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405251C>G , CM000685.2:g.53405251C>G	GRCh38
NC_000023.10:g.53432183C>G , CM000685.1:g.53432183C>G	GRCh37
NC_000023.9:g.53448908C>G	NCBI36
NG_006988.2:g.22420G>C , LRG_773:g.22420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2052G>C MANE Select	ENSP00000323421.3:p.Glu684Asp
ENST00000674590.1:c.1284G>C	ENSP00000502626.1:p.Glu428Asp
ENST00000675065.1:n.1404G>C
ENST00000675504.1:c.1986G>C	ENSP00000502524.1:p.Glu662Asp
ENST00000322213.8:c.2052G>C	ENSP00000323421.3:p.Glu684Asp
ENST00000375340.10:c.1986G>C	ENSP00000364489.7:p.Glu662Asp
NM_001281463.1:c.1986G>C , LRG_773t1:c.1986G>C	NP_001268392.1:p.Glu662Asp
NM_006306.3:c.2052G>C , LRG_773t2:c.2052G>C	NP_006297.2:p.Glu684Asp
NM_006306.4:c.2052G>C MANE Select	NP_006297.2:p.Glu684Asp