Canonical Allele Identifier: CA413252531

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53432295T>A (hg19) ; chrX:g.53405363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405363T>A , CM000685.2:g.53405363T>A	GRCh38
NC_000023.10:g.53432295T>A , CM000685.1:g.53432295T>A	GRCh37
NC_000023.9:g.53449020T>A	NCBI36
NG_006988.2:g.22308A>T , LRG_773:g.22308A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1940A>T MANE Select	ENSP00000323421.3:p.Gln647Leu
ENST00000674590.1:c.1172A>T	ENSP00000502626.1:p.Gln391Leu
ENST00000675065.1:n.1292A>T
ENST00000675504.1:c.1874A>T	ENSP00000502524.1:p.Gln625Leu
ENST00000322213.8:c.1940A>T	ENSP00000323421.3:p.Gln647Leu
ENST00000375340.10:c.1874A>T	ENSP00000364489.7:p.Gln625Leu
NM_001281463.1:c.1874A>T , LRG_773t1:c.1874A>T	NP_001268392.1:p.Gln625Leu
NM_006306.3:c.1940A>T , LRG_773t2:c.1940A>T	NP_006297.2:p.Gln647Leu
NM_006306.4:c.1940A>T MANE Select	NP_006297.2:p.Gln647Leu