Canonical Allele Identifier: CA148479

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 95364
• ClinVar RCV Id: RCV000081383 ; RCV000260444 ; RCV001808312 ; RCV001808313 ; RCV001711246
• dbSNP Id: rs1264011
• ExAC: X:53449568 G / A
• gnomAD v2: X-53449568-G-A
• gnomAD v3: X-53422619-G-A
• gnomAD v4: X-53422619-G-A
• MyVariant Identifiers: chrX:g.53449568G>A (hg19) ; chrX:g.53422619G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53422619G>A , CM000685.2:g.53422619G>A	GRCh38
NC_000023.10:g.53449568G>A , CM000685.1:g.53449568G>A	GRCh37
NC_000023.9:g.53466293G>A	NCBI36
NG_006988.2:g.5052C>T , LRG_773:g.5052C>T
NG_033076.2:g.4765G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.-19C>T MANE Select	ENSP00000323421.3:n.-19C>T
ENST00000674590.1:c.-231C>T	ENSP00000502626.1:n.-231C>T
ENST00000675065.1:n.36C>T
ENST00000322213.8:c.-19C>T	ENSP00000323421.3:n.-19C>T
ENST00000375340.10:c.-231C>T	ENSP00000364489.7:n.-231C>T
ENST00000463684.1:c.-19C>T	ENSP00000476958.1:n.-19C>T
NM_001281463.1:c.-231C>T , LRG_773t1:c.-231C>T	NP_001268392.1:n.-231C>T
NM_006306.3:c.-19C>T , LRG_773t2:c.-19C>T	NP_006297.2:n.-19C>T
NM_006306.4:c.-19C>T MANE Select	NP_006297.2:n.-19C>T