Canonical Allele Identifier: CA516553423

Gene: SMC1A

Linked Data

• ClinVar Variation Id: 1077512
• ClinVar RCV Id: RCV001392092
• dbSNP Id: rs146216425
• gnomAD v4: X-53380647-G-C
• MyVariant Identifiers: chrX:g.53407568G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380647G>C , CM000685.2:g.53380647G>C	GRCh38
NC_000023.10:g.53407568G>C , CM000685.1:g.53407568G>C	GRCh37
NC_000023.9:g.53424293G>C	NCBI36
NG_006988.2:g.47024C>G , LRG_773:g.47024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3591C>G MANE Select	ENSP00000323421.3:p.Ala1197=
ENST00000674590.1:c.2823C>G	ENSP00000502626.1:p.Ala941=
ENST00000675504.1:c.3525C>G	ENSP00000502524.1:p.Ala1175=
ENST00000322213.8:c.3591C>G	ENSP00000323421.3:p.Ala1197=
ENST00000375340.10:c.3525C>G	ENSP00000364489.7:p.Ala1175=
ENST00000470241.2:c.811C>G
NM_001281463.1:c.3525C>G , LRG_773t1:c.3525C>G	NP_001268392.1:p.Ala1175=
NM_006306.3:c.3591C>G , LRG_773t2:c.3591C>G	NP_006297.2:p.Ala1197=
NM_006306.4:c.3591C>G MANE Select	NP_006297.2:p.Ala1197=