Canonical Allele Identifier: CA516688683

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556890612
• gnomAD v2: X-53439101-C-T
• gnomAD v4: X-53412151-C-T
• MyVariant Identifiers: chrX:g.53439101C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412151C>T , CM000685.2:g.53412151C>T	GRCh38
NC_000023.10:g.53439101C>T , CM000685.1:g.53439101C>T	GRCh37
NC_000023.9:g.53455826C>T	NCBI36
NG_006988.2:g.15520G>A , LRG_773:g.15520G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.957G>A MANE Select	ENSP00000323421.3:p.Leu319=
ENST00000674590.1:c.346-250G>A	ENSP00000502626.1:n.346-250G>A
ENST00000675065.1:n.466-250G>A
ENST00000675504.1:c.891G>A	ENSP00000502524.1:p.Leu297=
ENST00000322213.8:c.957G>A	ENSP00000323421.3:p.Leu319=
ENST00000375340.10:c.891G>A	ENSP00000364489.7:p.Leu297=
ENST00000463684.1:c.*490G>A	ENSP00000476958.1:n.*490G>A
NM_001281463.1:c.891G>A , LRG_773t1:c.891G>A	NP_001268392.1:p.Leu297=
NM_006306.3:c.957G>A , LRG_773t2:c.957G>A	NP_006297.2:p.Leu319=
NM_006306.4:c.957G>A MANE Select	NP_006297.2:p.Leu319=