Canonical Allele Identifier: CA16621448
Gene: SMC1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421309
ClinVar RCV Id: RCV000481146
dbSNP Id: rs1064795049
MyVariant Identifiers: chrX:g.53440177C>T (hg19) chrX:g.53413227C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53413227C>T , CM000685.2:g.53413227C>T GRCh38
NC_000023.10:g.53440177C>T , CM000685.1:g.53440177C>T GRCh37
NC_000023.9:g.53456902C>T NCBI36
NG_006988.2:g.14444G>A , LRG_773:g.14444G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000322213.9:c.615+5G>A MANE Select ENSP00000323421.3:n.615+5G>A
ENST00000674590.1:c.346-1326G>A ENSP00000502626.1:n.346-1326G>A
ENST00000675065.1:n.466-1326G>A
ENST00000675504.1:c.549+5G>A ENSP00000502524.1:n.549+5G>A
ENST00000322213.8:c.615+5G>A ENSP00000323421.3:n.615+5G>A
ENST00000375340.10:c.549+5G>A ENSP00000364489.7:n.549+5G>A
ENST00000428014.1:c.549+5G>A ENSP00000413509.2:n.549+5G>A
ENST00000463684.1:c.*148+5G>A ENSP00000476958.1:n.*148+5G>A
NM_001281463.1:c.549+5G>A , LRG_773t1:c.549+5G>A NP_001268392.1:n.549+5G>A
NM_006306.3:c.615+5G>A , LRG_773t2:c.615+5G>A NP_006297.2:n.615+5G>A
NM_006306.4:c.615+5G>A MANE Select NP_006297.2:n.615+5G>A
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