Canonical Allele Identifier: CA2693803819

Gene: SMC1A

Linked Data

• gnomAD v4: X-53382457-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53382457G>A , CM000685.2:g.53382457G>A	GRCh38
NC_000023.10:g.53409378G>A , CM000685.1:g.53409378G>A	GRCh37
NC_000023.9:g.53426103G>A	NCBI36
NG_006988.2:g.45214C>T , LRG_773:g.45214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322213.9:c.3285+49C>T MANE Select	ENSP00000323421.3:n.3285+49C>T
ENST00000674590.1:c.2517+49C>T	ENSP00000502626.1:n.2517+49C>T
ENST00000675504.1:c.3219+49C>T	ENSP00000502524.1:n.3219+49C>T
ENST00000322213.8:c.3285+49C>T	ENSP00000323421.3:n.3285+49C>T
ENST00000375340.10:c.3219+49C>T	ENSP00000364489.7:n.3219+49C>T
ENST00000469129.1:n.141+49C>T
ENST00000470241.2:c.575+49C>T
NM_001281463.1:c.3219+49C>T , LRG_773t1:c.3219+49C>T	NP_001268392.1:n.3219+49C>T
NM_006306.3:c.3285+49C>T , LRG_773t2:c.3285+49C>T	NP_006297.2:n.3285+49C>T
NM_006306.4:c.3285+49C>T MANE Select	NP_006297.2:n.3285+49C>T