Canonical Allele Identifier: CA413241511

Gene: SMC1A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53380134G>T , CM000685.2:g.53380134G>T	GRCh38
NC_000023.10:g.53407055G>T , CM000685.1:g.53407055G>T	GRCh37
NC_000023.9:g.53423780G>T	NCBI36
NG_006988.2:g.47537C>A , LRG_773:g.47537C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3671C>A MANE Select	ENSP00000323421.3:p.Pro1224Gln
ENST00000674590.1:c.2903C>A	ENSP00000502626.1:p.Pro968Gln
ENST00000675504.1:c.3605C>A	ENSP00000502524.1:p.Pro1202Gln
ENST00000322213.8:c.3671C>A	ENSP00000323421.3:p.Pro1224Gln
ENST00000375340.10:c.3605C>A	ENSP00000364489.7:p.Pro1202Gln
NM_001281463.1:c.3605C>A , LRG_773t1:c.3605C>A	NP_001268392.1:p.Pro1202Gln
NM_006306.3:c.3671C>A , LRG_773t2:c.3671C>A	NP_006297.2:p.Pro1224Gln
NM_006306.4:c.3671C>A MANE Select	NP_006297.2:p.Pro1224Gln