Canonical Allele Identifier: CA413244143

Gene: SMC1A

Linked Data

• gnomAD v4: X-53382565-A-G
• MyVariant Identifiers: chrX:g.53409486A>G (hg19) ; chrX:g.53382565A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382565A>G , CM000685.2:g.53382565A>G	GRCh38
NC_000023.10:g.53409486A>G , CM000685.1:g.53409486A>G	GRCh37
NC_000023.9:g.53426211A>G	NCBI36
NG_006988.2:g.45106T>C , LRG_773:g.45106T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3226T>C MANE Select	ENSP00000323421.3:p.Ser1076Pro
ENST00000674590.1:c.2458T>C	ENSP00000502626.1:p.Ser820Pro
ENST00000675504.1:c.3160T>C	ENSP00000502524.1:p.Ser1054Pro
ENST00000322213.8:c.3226T>C	ENSP00000323421.3:p.Ser1076Pro
ENST00000375340.10:c.3160T>C	ENSP00000364489.7:p.Ser1054Pro
ENST00000469129.1:n.82T>C
ENST00000470241.2:c.516T>C
NM_001281463.1:c.3160T>C , LRG_773t1:c.3160T>C	NP_001268392.1:p.Ser1054Pro
NM_006306.3:c.3226T>C , LRG_773t2:c.3226T>C	NP_006297.2:p.Ser1076Pro
NM_006306.4:c.3226T>C MANE Select	NP_006297.2:p.Ser1076Pro