Canonical Allele Identifier: CA413257296

Gene: SMC1A

Linked Data

• dbSNP Id: rs1556890589
• gnomAD v2: X-53439010-A-C
• MyVariant Identifiers: chrX:g.53439010A>C (hg19) ; chrX:g.53412060A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412060A>C , CM000685.2:g.53412060A>C	GRCh38
NC_000023.10:g.53439010A>C , CM000685.1:g.53439010A>C	GRCh37
NC_000023.9:g.53455735A>C	NCBI36
NG_006988.2:g.15611T>G , LRG_773:g.15611T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1048T>G MANE Select	ENSP00000323421.3:p.Phe350Val
ENST00000674590.1:c.346-159T>G	ENSP00000502626.1:n.346-159T>G
ENST00000675065.1:n.466-159T>G
ENST00000675504.1:c.982T>G	ENSP00000502524.1:p.Phe328Val
ENST00000322213.8:c.1048T>G	ENSP00000323421.3:p.Phe350Val
ENST00000375340.10:c.982T>G	ENSP00000364489.7:p.Phe328Val
ENST00000463684.1:c.*581T>G	ENSP00000476958.1:n.*581T>G
NM_001281463.1:c.982T>G , LRG_773t1:c.982T>G	NP_001268392.1:p.Phe328Val
NM_006306.3:c.1048T>G , LRG_773t2:c.1048T>G	NP_006297.2:p.Phe350Val
NM_006306.4:c.1048T>G MANE Select	NP_006297.2:p.Phe350Val