Canonical Allele Identifier: CA516688150

Gene: SMC1A

Linked Data

• gnomAD v4: X-53405559-A-G
• MyVariant Identifiers: chrX:g.53432491A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405559A>G , CM000685.2:g.53405559A>G	GRCh38
NC_000023.10:g.53432491A>G , CM000685.1:g.53432491A>G	GRCh37
NC_000023.9:g.53449216A>G	NCBI36
NG_006988.2:g.22112T>C , LRG_773:g.22112T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1845T>C MANE Select	ENSP00000323421.3:p.Asn615=
ENST00000674590.1:c.1077T>C	ENSP00000502626.1:p.Asn359=
ENST00000675065.1:n.1197T>C
ENST00000675504.1:c.1779T>C	ENSP00000502524.1:p.Asn593=
ENST00000322213.8:c.1845T>C	ENSP00000323421.3:p.Asn615=
ENST00000375340.10:c.1779T>C	ENSP00000364489.7:p.Asn593=
NM_001281463.1:c.1779T>C , LRG_773t1:c.1779T>C	NP_001268392.1:p.Asn593=
NM_006306.3:c.1845T>C , LRG_773t2:c.1845T>C	NP_006297.2:p.Asn615=
NM_006306.4:c.1845T>C MANE Select	NP_006297.2:p.Asn615=