Canonical Allele Identifier: CA413255576

Gene: SMC1A

Linked Data

• MyVariant Identifiers: chrX:g.53436100C>A (hg19) ; chrX:g.53409169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53409169C>A , CM000685.2:g.53409169C>A	GRCh38
NC_000023.10:g.53436100C>A , CM000685.1:g.53436100C>A	GRCh37
NC_000023.9:g.53452825C>A	NCBI36
NG_006988.2:g.18502G>T , LRG_773:g.18502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1438G>T MANE Select	ENSP00000323421.3:p.Val480Leu
ENST00000674590.1:c.670G>T	ENSP00000502626.1:p.Val224Leu
ENST00000675065.1:n.790G>T
ENST00000675504.1:c.1372G>T	ENSP00000502524.1:p.Val458Leu
ENST00000322213.8:c.1438G>T	ENSP00000323421.3:p.Val480Leu
ENST00000375340.10:c.1372G>T	ENSP00000364489.7:p.Val458Leu
NM_001281463.1:c.1372G>T , LRG_773t1:c.1372G>T	NP_001268392.1:p.Val458Leu
NM_006306.3:c.1438G>T , LRG_773t2:c.1438G>T	NP_006297.2:p.Val480Leu
NM_006306.4:c.1438G>T MANE Select	NP_006297.2:p.Val480Leu