Canonical Allele Identifier: CA2429825217

Gene: SMC1A

Linked Data

• dbSNP Id: rs782327291

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53405197C>A , CM000685.2:g.53405197C>A	GRCh38
NC_000023.10:g.53432129C>A , CM000685.1:g.53432129C>A	GRCh37
NC_000023.9:g.53448854C>A	NCBI36
NG_006988.2:g.22474G>T , LRG_773:g.22474G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.2059-48G>T MANE Select	ENSP00000323421.3:n.2059-48G>T
ENST00000674590.1:c.1291-48G>T	ENSP00000502626.1:n.1291-48G>T
ENST00000675065.1:n.1411-48G>T
ENST00000675504.1:c.1993-48G>T	ENSP00000502524.1:n.1993-48G>T
ENST00000322213.8:c.2059-48G>T	ENSP00000323421.3:n.2059-48G>T
ENST00000375340.10:c.1993-48G>T	ENSP00000364489.7:n.1993-48G>T
NM_001281463.1:c.1993-48G>T , LRG_773t1:c.1993-48G>T	NP_001268392.1:n.1993-48G>T
NM_006306.3:c.2059-48G>T , LRG_773t2:c.2059-48G>T	NP_006297.2:n.2059-48G>T
NM_006306.4:c.2059-48G>T MANE Select	NP_006297.2:n.2059-48G>T