Canonical Allele Identifier: CA10420494

Gene: SMC1A

Linked Data

• dbSNP Id: rs782612220
• ExAC: X:53432225 T / C
• gnomAD v2: X-53432225-T-C
• gnomAD v4: X-53405293-T-C
• MyVariant Identifiers: chrX:g.53432225T>C (hg19) ; chrX:g.53405293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405293T>C , CM000685.2:g.53405293T>C	GRCh38
NC_000023.10:g.53432225T>C , CM000685.1:g.53432225T>C	GRCh37
NC_000023.9:g.53448950T>C	NCBI36
NG_006988.2:g.22378A>G , LRG_773:g.22378A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2010A>G MANE Select	ENSP00000323421.3:p.Ala670=
ENST00000674590.1:c.1242A>G	ENSP00000502626.1:p.Ala414=
ENST00000675065.1:n.1362A>G
ENST00000675504.1:c.1944A>G	ENSP00000502524.1:p.Ala648=
ENST00000322213.8:c.2010A>G	ENSP00000323421.3:p.Ala670=
ENST00000375340.10:c.1944A>G	ENSP00000364489.7:p.Ala648=
NM_001281463.1:c.1944A>G , LRG_773t1:c.1944A>G	NP_001268392.1:p.Ala648=
NM_006306.3:c.2010A>G , LRG_773t2:c.2010A>G	NP_006297.2:p.Ala670=
NM_006306.4:c.2010A>G MANE Select	NP_006297.2:p.Ala670=