Canonical Allele Identifier: CA2429816908
Gene: SMC1A HGNC NCBI

Linked Data

dbSNP Id: rs2075578262
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.53380516C>T , CM000685.2:g.53380516C>T GRCh38
NC_000023.10:g.53407437C>T , CM000685.1:g.53407437C>T GRCh37
NC_000023.9:g.53424162C>T NCBI36
NG_006988.2:g.47155G>A , LRG_773:g.47155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000322213.9:c.3618+104G>A MANE Select ENSP00000323421.3:n.3618+104G>A
ENST00000674590.1:c.2850+104G>A ENSP00000502626.1:n.2850+104G>A
ENST00000675504.1:c.3552+104G>A ENSP00000502524.1:n.3552+104G>A
ENST00000322213.8:c.3618+104G>A ENSP00000323421.3:n.3618+104G>A
ENST00000375340.10:c.3552+104G>A ENSP00000364489.7:n.3552+104G>A
NM_001281463.1:c.3552+104G>A , LRG_773t1:c.3552+104G>A NP_001268392.1:n.3552+104G>A
NM_006306.3:c.3618+104G>A , LRG_773t2:c.3618+104G>A NP_006297.2:n.3618+104G>A
NM_006306.4:c.3618+104G>A MANE Select NP_006297.2:n.3618+104G>A
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