Canonical Allele Identifier: CA2429817328
Gene: SMC1A HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53382010T= , CM000685.2:g.53382010T= GRCh38
NC_000023.10:g.53408931T= , CM000685.1:g.53408931T= GRCh37
NC_000023.9:g.53425656T= NCBI36
NG_006988.2:g.45661A= , LRG_773:g.45661A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3437+222A= MANE Select ENSP00000323421.3:n.3437+222A=
ENST00000674590.1:c.2669+222A= ENSP00000502626.1:n.2669+222A=
ENST00000675504.1:c.3371+222A= ENSP00000502524.1:n.3371+222A=
ENST00000322213.8:c.3437+222A= ENSP00000323421.3:n.3437+222A=
ENST00000375340.10:c.3371+222A= ENSP00000364489.7:n.3371+222A=
ENST00000469129.1:n.515A=
ENST00000470241.2:c.727+222A=
NM_001281463.1:c.3371+222A= , LRG_773t1:c.3371+222A= NP_001268392.1:n.3371+222A=
NM_006306.3:c.3437+222A= , LRG_773t2:c.3437+222A= NP_006297.2:n.3437+222A=
NM_006306.4:c.3437+222A= MANE Select NP_006297.2:n.3437+222A=
Search 100 bp 5'
Search 100 bp 3'