Canonical Allele Identifier: CA329907582

Gene: SMC1A

Linked Data

• dbSNP Id: rs1053476527
• MyVariant Identifiers: chrX:g.53439017C>A (hg19) ; chrX:g.53412067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412067C>A , CM000685.2:g.53412067C>A	GRCh38
NC_000023.10:g.53439017C>A , CM000685.1:g.53439017C>A	GRCh37
NC_000023.9:g.53455742C>A	NCBI36
NG_006988.2:g.15604G>T , LRG_773:g.15604G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.1041G>T MANE Select	ENSP00000323421.3:p.Arg347=
ENST00000674590.1:c.346-166G>T	ENSP00000502626.1:n.346-166G>T
ENST00000675065.1:n.466-166G>T
ENST00000675504.1:c.975G>T	ENSP00000502524.1:p.Arg325=
ENST00000322213.8:c.1041G>T	ENSP00000323421.3:p.Arg347=
ENST00000375340.10:c.975G>T	ENSP00000364489.7:p.Arg325=
ENST00000463684.1:c.*574G>T	ENSP00000476958.1:n.*574G>T
NM_001281463.1:c.975G>T , LRG_773t1:c.975G>T	NP_001268392.1:p.Arg325=
NM_006306.3:c.1041G>T , LRG_773t2:c.1041G>T	NP_006297.2:p.Arg347=
NM_006306.4:c.1041G>T MANE Select	NP_006297.2:p.Arg347=