Canonical Allele Identifier: CA10420259

Gene: SMC1A

Linked Data

• dbSNP Id: rs781943084
• ExAC: X:53407574 G / C
• gnomAD v2: X-53407574-G-C
• gnomAD v3: X-53380653-G-C
• gnomAD v4: X-53380653-G-C
• MyVariant Identifiers: chrX:g.53407574G>C (hg19) ; chrX:g.53380653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380653G>C , CM000685.2:g.53380653G>C	GRCh38
NC_000023.10:g.53407574G>C , CM000685.1:g.53407574G>C	GRCh37
NC_000023.9:g.53424299G>C	NCBI36
NG_006988.2:g.47018C>G , LRG_773:g.47018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3585C>G MANE Select	ENSP00000323421.3:p.Thr1195=
ENST00000674590.1:c.2817C>G	ENSP00000502626.1:p.Thr939=
ENST00000675504.1:c.3519C>G	ENSP00000502524.1:p.Thr1173=
ENST00000322213.8:c.3585C>G	ENSP00000323421.3:p.Thr1195=
ENST00000375340.10:c.3519C>G	ENSP00000364489.7:p.Thr1173=
ENST00000470241.2:c.805C>G
NM_001281463.1:c.3519C>G , LRG_773t1:c.3519C>G	NP_001268392.1:p.Thr1173=
NM_006306.3:c.3585C>G , LRG_773t2:c.3585C>G	NP_006297.2:p.Thr1195=
NM_006306.4:c.3585C>G MANE Select	NP_006297.2:p.Thr1195=