Canonical Allele Identifier: CA2693802236

Gene: SMC1A

Linked Data

• gnomAD v4: X-53378100-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53378100C>A , CM000685.2:g.53378100C>A	GRCh38
NC_000023.10:g.53405021C>A , CM000685.1:g.53405021C>A	GRCh37
NC_000023.9:g.53421746C>A	NCBI36
NG_006988.2:g.49571G>T , LRG_773:g.49571G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.*2003G>T MANE Select	ENSP00000323421.3:n.*2003G>T
ENST00000675504.1:c.*2003G>T	ENSP00000502524.1:n.*2003G>T
ENST00000322213.8:c.*2003G>T	ENSP00000323421.3:n.*2003G>T
ENST00000375340.10:c.*2003G>T	ENSP00000364489.7:n.*2003G>T
NM_001281463.1:c.*2003G>T , LRG_773t1:c.*2003G>T	NP_001268392.1:n.*2003G>T
NM_006306.3:c.*2003G>T , LRG_773t2:c.*2003G>T	NP_006297.2:n.*2003G>T
NM_006306.4:c.*2003G>T MANE Select	NP_006297.2:n.*2003G>T