Canonical Allele Identifier: CA516688066

Gene: SMC1A

Linked Data

• dbSNP Id: rs2146599729
• MyVariant Identifiers: chrX:g.53432440G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405508G>C , CM000685.2:g.53405508G>C	GRCh38
NC_000023.10:g.53432440G>C , CM000685.1:g.53432440G>C	GRCh37
NC_000023.9:g.53449165G>C	NCBI36
NG_006988.2:g.22163C>G , LRG_773:g.22163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1896C>G MANE Select	ENSP00000323421.3:p.Gly632=
ENST00000674590.1:c.1128C>G	ENSP00000502626.1:p.Gly376=
ENST00000675065.1:n.1248C>G
ENST00000675504.1:c.1830C>G	ENSP00000502524.1:p.Gly610=
ENST00000322213.8:c.1896C>G	ENSP00000323421.3:p.Gly632=
ENST00000375340.10:c.1830C>G	ENSP00000364489.7:p.Gly610=
NM_001281463.1:c.1830C>G , LRG_773t1:c.1830C>G	NP_001268392.1:p.Gly610=
NM_006306.3:c.1896C>G , LRG_773t2:c.1896C>G	NP_006297.2:p.Gly632=
NM_006306.4:c.1896C>G MANE Select	NP_006297.2:p.Gly632=