Canonical Allele Identifier: CA329907580

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53412007C>T , CM000685.2:g.53412007C>T	GRCh38
NC_000023.10:g.53438957C>T , CM000685.1:g.53438957C>T	GRCh37
NC_000023.9:g.53455682C>T	NCBI36
NG_006988.2:g.15664G>A , LRG_773:g.15664G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.1101G>A MANE Select	NP_006297.2:p.Leu367=
ENST00000322213.9:c.1101G>A MANE Select	ENSP00000323421.3:p.Leu367=
NM_001281463.1:c.1035G>A , LRG_773t1:c.1035G>A	NP_001268392.1:p.Leu345=
NM_006306.3:c.1101G>A , LRG_773t2:c.1101G>A	NP_006297.2:p.Leu367=
ENST00000322213.8:c.1101G>A	ENSP00000323421.3:p.Leu367=
ENST00000375340.10:c.1035G>A	ENSP00000364489.7:p.Leu345=
ENST00000463684.1:c.*634G>A	ENSP00000476958.1:n.*634G>A
ENST00000674590.1:c.346-106G>A	ENSP00000502626.1:n.346-106G>A
ENST00000675065.1:n.466-106G>A
ENST00000675504.1:c.1035G>A	ENSP00000502524.1:p.Leu345=