Canonical Allele Identifier: CA333597

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53415158G>A , CM000685.2:g.53415158G>A	GRCh38
NC_000023.10:g.53442107G>A , CM000685.1:g.53442107G>A	GRCh37
NC_000023.9:g.53458832G>A	NCBI36
NG_006988.2:g.12513C>T , LRG_773:g.12513C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006306.4:c.121C>T MANE Select	NP_006297.2:p.Leu41Phe
ENST00000322213.9:c.121C>T MANE Select	ENSP00000323421.3:p.Leu41Phe
NM_001281463.1:c.55C>T , LRG_773t1:c.55C>T	NP_001268392.1:p.Leu19Phe
NM_006306.3:c.121C>T , LRG_773t2:c.121C>T	NP_006297.2:p.Leu41Phe
ENST00000322213.8:c.121C>T	ENSP00000323421.3:p.Leu41Phe
ENST00000375340.10:c.55C>T	ENSP00000364489.7:p.Leu19Phe
ENST00000428014.1:c.55C>T	ENSP00000413509.2:p.Leu19Phe
ENST00000463684.1:c.110-1723C>T	ENSP00000476958.1:n.110-1723C>T
ENST00000674590.1:c.55C>T	ENSP00000502626.1:p.Leu19Phe
ENST00000675065.1:n.175C>T
ENST00000675504.1:c.55C>T	ENSP00000502524.1:p.Leu19Phe