Canonical Allele Identifier: CA10420524

Gene: SMC1A MIR6857

Linked Data

• dbSNP Id: rs782334083
• ExAC: X:53432624 C / T
• gnomAD v4: X-53405692-C-T
• MyVariant Identifiers: chrX:g.53432624C>T (hg19) ; chrX:g.53405692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405692C>T , CM000685.2:g.53405692C>T	GRCh38
NC_000023.10:g.53432624C>T , CM000685.1:g.53432624C>T	GRCh37
NC_000023.9:g.53449349C>T	NCBI36
NG_006988.2:g.21979G>A , LRG_773:g.21979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1732-20G>A (SMC1A) MANE Select	ENSP00000323421.3:n.1732-20G>A
ENST00000674590.1:c.964-20G>A (SMC1A)	ENSP00000502626.1:n.964-20G>A
ENST00000675065.1:n.1084-20G>A (SMC1A)
ENST00000675504.1:c.1666-20G>A (SMC1A)	ENSP00000502524.1:n.1666-20G>A
ENST00000322213.8:c.1732-20G>A (SMC1A)	ENSP00000323421.3:n.1732-20G>A
ENST00000375340.10:c.1666-20G>A (SMC1A)	ENSP00000364489.7:n.1666-20G>A
NM_001281463.1:c.1666-20G>A , LRG_773t1:c.1666-20G>A (SMC1A)	NP_001268392.1:n.1666-20G>A
NM_006306.3:c.1732-20G>A , LRG_773t2:c.1732-20G>A (SMC1A)	NP_006297.2:n.1732-20G>A
NR_106916.1:n.74G>A (MIR6857)
NM_006306.4:c.1732-20G>A (SMC1A) MANE Select	NP_006297.2:n.1732-20G>A