Canonical Allele Identifier: CA641897234

Gene: SMC1A

Linked Data

• dbSNP Id: rs781868574
• gnomAD v2: X-53435959-G-C
• gnomAD v3: X-53409028-G-C
• gnomAD v4: X-53409028-G-C
• MyVariant Identifiers: chrX:g.53435959G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409028G>C , CM000685.2:g.53409028G>C	GRCh38
NC_000023.10:g.53435959G>C , CM000685.1:g.53435959G>C	GRCh37
NC_000023.9:g.53452684G>C	NCBI36
NG_006988.2:g.18643C>G , LRG_773:g.18643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1545+34C>G MANE Select	ENSP00000323421.3:n.1545+34C>G
ENST00000674590.1:c.777+34C>G	ENSP00000502626.1:n.777+34C>G
ENST00000675065.1:n.897+34C>G
ENST00000675504.1:c.1479+34C>G	ENSP00000502524.1:n.1479+34C>G
ENST00000322213.8:c.1545+34C>G	ENSP00000323421.3:n.1545+34C>G
ENST00000375340.10:c.1479+34C>G	ENSP00000364489.7:n.1479+34C>G
NM_001281463.1:c.1479+34C>G , LRG_773t1:c.1479+34C>G	NP_001268392.1:n.1479+34C>G
NM_006306.3:c.1545+34C>G , LRG_773t2:c.1545+34C>G	NP_006297.2:n.1545+34C>G
NM_006306.4:c.1545+34C>G MANE Select	NP_006297.2:n.1545+34C>G