Canonical Allele Identifier: CA2693805856

Gene: SMC1A

Linked Data

• gnomAD v4: X-53414690-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.53414690C>A , CM000685.2:g.53414690C>A	GRCh38
NC_000023.10:g.53441639C>A , CM000685.1:g.53441639C>A	GRCh37
NC_000023.9:g.53458364C>A	NCBI36
NG_006988.2:g.12981G>T , LRG_773:g.12981G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000322213.9:c.411+68G>T MANE Select	ENSP00000323421.3:n.411+68G>T
ENST00000674590.1:c.345+68G>T	ENSP00000502626.1:n.345+68G>T
ENST00000675065.1:n.465+68G>T
ENST00000675504.1:c.345+68G>T	ENSP00000502524.1:n.345+68G>T
ENST00000322213.8:c.411+68G>T	ENSP00000323421.3:n.411+68G>T
ENST00000375340.10:c.345+68G>T	ENSP00000364489.7:n.345+68G>T
ENST00000428014.1:c.345+68G>T	ENSP00000413509.2:n.345+68G>T
ENST00000463684.1:c.110-1255G>T	ENSP00000476958.1:n.110-1255G>T
NM_001281463.1:c.345+68G>T , LRG_773t1:c.345+68G>T	NP_001268392.1:n.345+68G>T
NM_006306.3:c.411+68G>T , LRG_773t2:c.411+68G>T	NP_006297.2:n.411+68G>T
NM_006306.4:c.411+68G>T MANE Select	NP_006297.2:n.411+68G>T